Turkish origin

025, 039, 146, 153, 156, 186, 252, 332, 350

STY NSP
Dist. telomer (Mb) control Dist. telomer (Mb)
Cut Off Chrom Ind. freq start stop Ind. freq start-stop Chrom Ind. freq start stop
25
2 1-4 210 235 1 peaks 220, 225 2 1-6 210 240
3 2-5 30 60 1-4;1-5 45; 50 3 1-8 22, peak 52 62
5 2, peak4 70, peak at 80 100 no peak 5 1-4 25, peak 80 100
8 centromer 2-5 40 50 1-5 peak 50 8 cent 4 40 50
11 2-4 15 125 2-4 50 11 2-7 10 peak 30, 40 50
12 1-4 5 45 (centromer 35) 1-4 peaks 30, 45 12 1-5 5 55 (centromer 35)
12 3-4 50 65 nil; 2 12 2-6 52 65
12 2-5 95 115 2 peak 110 12 2-3 95 115
16 2-4 9 18 1 peaks 30, 45 16 2-3 10 22
16 2-4 30 50 1-6 30-50 16 2-3 27 55
21 1-3 18 45 nil 21 1 18 45
X 4-7 4-8 all X 3-8
50
2 1-3 195 220 nil 2 1-3 240
3 1-3 25 60 1 40-55 3 1-3 25 60
5 1-2 25 115 nil 5 1-2 25 105
8 2 40 50 1-2 peak 48 8 cent 0-1 40 50
11 1-2 10 55 (125) 1-2 45-55 11 1-5 10 55
12 1-4 5 end 1 small peaks 12 1-5 10 120
12 3-4 55 65 nil 12 1-5 50 65
12 2-3 95 115 nil 12 2 95 115
16 2-3 10 28 nil 16 2 10 22
16 2 29 55 nil 16 2-3 27 55
21 1 18 45 nil 21 1 18 45
X 4-7 4 all X 2-5
200
1 2 18 32 nil 1 1-2 18 32
2 1-3 210 235 nil 2 1-2 210 235
3 1-2 30 55 nil 3 1-2 25 65
5 1-2 70 98 nil 5 1-2 50 100
8 nil 40 50 nil 8 nil 40 50
11 1-2 scattered: 10 130 1 peak 45 11 1-2 scattered: 10-53 and 95-120
12 1 scattered: 5 35 nil 12 1 scattered: 12 25
12 1-4 50 65 nil 12 2-3 52 67
12 1-2 100 110 nil 12 2 100 110
16 1-2 9 18 nil 16 2 7 18
16 1-2 35 55 nil 16 2 48 55
21 1 18 33 nil 21 1 18-28 and 35-42
X 1-4 4 all X 1-5 5
Other origin
204 (IC), 268 (CA), 279(LE), 336, 341, 359 (Oman)
STY NSP
Dist. telomer (Mb) control Dist. telomer (Mb)
Cut Off Chrom Ind. freq start stop Ind. freq start-stop Chrom Ind. freq start stop
25
3 1-3 30 70 1-3 40-50 3 1-3 30 75
x 3 1-3 115 125 nil 3 1-3 100 135
x 3 1-2 185 190 1 185 3 1-2 185 195
7 1-2 7 22 nil 7 1-3 7 48
7 4 130 135 1-2 130 7 4 130 135
9 1-3 0 12 nil 9 1-3 0 12
10 1-4 22 25 1 10 1-4 20 23
11 1-4 45 70 1-2 45-55 11 1-4 45 70
11 4 123 124 nil 11 4 123 124
15 1-3 70 peak at 75 1-2; nil at 75 70 15 1-4 70 peak at 75
16 1-2 peak at 30 peak at 48 1-4 peaks at 30, 48 16 1-2 30 48
21 2-4 29 43 1-2 peaks at 29, 36 etc 21 1-4 25 43
X 1-5 3-5 all X 2-5
50
3 1 25 70 1 peak 60 3 1-2 30 73
x 3 1-3 100 130 nil 3 1-3 100 133
x 3 1-2 185 190 nil 3 1-2 185 190
7 1-2 10 23 nil 7 1-2 5 45
7 1-4 130 135 1 133 7 1-4 128 150
9 2-3 5 10 nil 9 1-3 0 12
10 2 25 30 nil 10 1-2 5 30
10 2 85 95 nil 10 1-2 85 110
11 1-3 45 70 1-2 45-57 11 1-4 35 70
11 1 95 125 nil 11 1 95 125
15 1-2 70 75 nil 15 1 35 80
16 1 peak at 48 nil 16 1 30 48
21 1-2 25 33 nil 21 1-3 25 43
X 2-4 3 all X 1-5
200
3 nil 25 70 nil 3 1 33 66
3 1 125 130 nil 3 1-3 105 135
3 1 185 190 nil 3 1 185 190
7 1 30 35 nil 7 1-2 5 20 (45)
7 1 135 145 nil 7 1 130 150
9 1 5 10 nil 9 1-2 5 25 (80)
10 1 45 50 nil 10 1 5 110
11 nil 85 95 nil 11 1 95 120
11 1 45 55 1 47-50 11 1 55 60
15 1 94 98 nil 15 1 35 65
16 nil 70 75 nil 16 nil 70 75
21 1-2 35 42 nil 21 1-2 35 42
X 1-3 5 160 3 all X 1-3 5 150
All
025, 039, 146, 153, 156, 186, 204, 268, 279, 252, 332, 336, 341, 350, 359
STY NSP
Dist. telomer (Mb) control Dist. telomer (Mb)
Cut Off Chrom Ind. freq start stop Ind. freq start-stop Chrom Ind. freq start stop
25

50
 control
Ind. freq start-stop

4 peak 210
peaks, peak 52
peaks, no peak 80
nil
no peak 30, peaks 25, 40
peaks
peak 57
small peaks
peak 10,12, 22
peak 47,55
peaks 28, 30, 40
5-9 all

nil
peak 50
peak 40
nil
peaks 25, 35
peaks
small peak 57
a
nil
nil
peak s 28, 30
5-6 all

nil
nil
nil
nil
nil
nil
nil
nil
nil
nil
nil
nil
all
 Known Disease Loci

Distance from telomer (Mb)

control exons chromosome cytoband start stop length (Mb) length (SNPs)
Ind. freq start-stop 4 6 6q24 ca 142 ca 149 ca 7
9 9q21.3-22
1-2 peaks 7 10 10q21-22 ca 71 ca 81 ca 10
1-3 peaks 33 17 17q24 ca 60 ca 65 ca 5
1 190 22 22q12.3 ca 31 ca 38 ca 7
1-4 peaks
2 133
1 peak at7
1 gene protein expression
disease status chromosome cytoband exons
1-4 peaks at 47, 57 Unknown Unknown FHL1 9 9q21.3-22
1 peak at 123 PRF1 Perforin FHL2 10 10q21-22 7
1 peak UNC13D Munc 13-4 FHL3 17 17q24 33
1 peak at 48 STX11 Syntaxin 11 FHL4 6 6q24 4
1-3 peaks at 30, 40 MYHIIA Myosin ? 22 22q12.3
3-6 all

1 some peaks
nil
nil
nil
1 peak at 145
nil
1 peaks 17, 25
2 peak 105
1-3 peaka at 38, 55
nil
nil
nil
1 peaks at 28, 30
3-4 5-150

nil
nil
nil
nil
nil
nil
1 35-45
1 peak 90
nil
nil
nil
nil
3 all
 control
Ind. freq start-stop
 genes protein expression
disease status
STX11 Syntaxin Syntaxin 11 FHL4
Unknown Unknown FHL1
PRF1 Perforin Perforin FHL2
UNC13D Munc 13-4 FHL3
MYHIIA Myosin ?
Individual Analysis
Individual to investigate (CO 50)
Turkish Other
25 39 146 153 156 186 252 332 350 204 268 279 336
Gender M M F F F F M M M ? ? F M
Chromosome
STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY NSP STY
1x x x x x x x x x x
2 x x x x x x
3 x x x x x x x
3: 100-130 x
4 x x x x x
5 x x x x x x
6 x x x x
7 x x x x x x x x
8x x x x x x x x
9 x x x x x
10 x x x x
11 x x x x x x x x x x x
12 x x x x x x x x x x x x
12: 52-65 (Nsp) x x x x x
12: 45-55 x x x x x
13 x x x
14 x x
15 x x x x
16 x x x x x x x
17 x x x x x x
18 x x
19 x x x x
20 x x
21 0x x x x
22 x x
X C C C x x x x x x x x x x x
36 341 359
M M ?
NSP STY NSP STY NSP
x x x x

x x x
x x
x

x x
x x
x x
x x x
x
x x x

x
x x x x
x x

x x x x
x x

x x x

x x x
Individual Gene Analysis

Gene Characteristics

Chromosome Gene Cytoband Region (Mb) Protein Subcellular location

1
2
3
CCR9 3p21.31 45.903023-45.919671 C-C chemokineMembrane;
receptor type
multi-pass
9 (C-C CKR-
mem
FYCO1 45.934400-46.012304 FYVE and coiled-coil domain-containing p
CXCR6 45.959977-45.964849 C-X-C chemokine
Membrane;
receptormulti-pass
type 6 (CXC-R6
mem

PCNP 102.775732-102.795971 PEST-containing nuclear protein

ALCAM ALCAM protein (Activated leukocyte cell a
BBX HMG-BOX transcription factor BBX
CD47 CD47 antigen isoform 1 precursor
PVRL3 nectin 3
CD96 CD96 antigen isoform 2 precursor
DRD3
BOC CDNA FLJ31797 fis, clone NT2RI2008942
GAP43 growth associated protein 43
LSAMP limbic system-associated membrane prot
IGSF11 q23.1 120102169-120236366 immunoglobulin (Ig) superfamily member
UPK1B uroplakin 1B
GPR156 G protein-coupled receptor 156
POLQ DNA polymerase theta
CD200 113534606-113564348 CD200 antigen isoform b
CD200R1 114124222-114176627 CD200 receptor 1 isoform a
CD80 120725830-120761171 CD80 antigen precursor
CD86 CD86 antigen isoform 1
KPNA1 123623438-123662194 karyopherin alpha 1
CSTA cystatin A
ADCY5 adenylate cyclase 5
BCL6 188921859-188936942 B-cell lymphoma 6 protein (BCL-6) (Zinc f
4
5
6
7
8
9
10
11
12
FLJ21903 46.343341-46.386041 hypothetical protein LOC79657
NK, B, T, monocytes, dendritic, lymph

P11 46.389795-46405617 placental protein 11 precursor

AL831948 46.399301-46.422344 Homo sapiens mRNA; cDNA DKFZp761B0
RAPGEF3 46.417293-46.422342 RAP guanine-nucleotide-exchange factor
 FLJ20489 46.451637-46.462801 Homo sapiens cDNA FLJ20489 fis, clone K
HDAC7A 46.462774-46.473638 histone deacetylase 7A isoform b
VDR 46.521587-46.5850 Homo sapiens vitamin D receptor (VDR) m
TMEM106C 46.643634-46.648928 hypothetical protein LOC79022
COL2A1 46.653015-46.655663 Collagen alpha-1(II) chain precursor [Con
SENP1 46.723024-46.785908 Protease that catalyzes
Nucleus. Cytoplasm.
two essential
Note=
fun
PFKM 46.785973-46.826154 Phosphofructokinase (EC 2.7.1.11) (PFKM
ASB8 46.827839-46.837644 ankyrin repeat and SOCS box-containing
LOC387856 46.863666-46.865976 hypothetical protein LOC387856
DKFZp779L1853 46.878411-46.882113 Hypothetical protein DKFZp779L1853.
OR10AD1 46.882389-46.883342 olfactory receptor, family 10, subfamily A
H1FNT 47.009030-47.010329 histone H1 variant
ZNF641 47.022179-47030268 zinc finger protein 641
AX747699 47.030111-47.030843 Homo sapiens cDNA FLJ35421 fis, clone S
ANP32D 47.152715-47.153110 acidic nuclear phosphoprotein 32D
OR8S1
LALBA
C12orf54 47.163290-47.176434 hypothetical protein LOC121273
DKFZp762L0110
C120rf41
NR_002968
NR_002950
NR_002951
BX537516

BIN2
ELA1
GALNT6
krt5
hoxc12
or6c6
ITGA7 54364621-54387894
EIF4B 51686490-51722260
CBX5 52921677-52939585
CD63 CD63 antigen isoform A
GDF11

13
14
15
16 CD19
STX4 p11.2 28850761-28858164 CD19 antigen
LAT p11.2 30951917-30958586 Homo sapiens syntaxin 4 (STX4) mRNA, c
MLAS p11.2 28903027-28909605 linker for activation of T cells isoform c
29531925-29532539 HLAT1-3TM
ITFG1
IGHV 45746799-46052516 T-cell immunomodulatory protein (TIP pro
IGHV3-30 q21 Genes encoding immunoglobulin heavy c
IGH q21
q21
18
19
20
21
22 SYB1 (VAMP7)
X q28 146,9-154,9 synaptobrevin-like 1
 thymocytes
recruitment
and
development
that may
permit
functional
specialization
of immune 25 39 146
responses in STY NSP STY NSP STY
Tissue different
Function
segment of
the
gastrointesti
Highly expressed
nal tract.
in the thymus and low in lymph nodes and spleen.
Expressed in heart and skeletal muscle.
Expressed in lymphoid
Receptor tissues
for the and
C-X-C
activated
chemokine
T cells.
CXCL16. Used as a coreceptor by SIVs and by strains

PESTdentritic
BM CD-cells, PB CD-cells, proteolytic signal-containing
cells, NK-cells, nuclear
monocytes, T-cells, protein.
B-cells, several Maylymphoblasts
leukemia be involved in cell cycle regulati
epithelal cells, brain, dendritic cells
B-cells
orm 1 precursor Receptor for PTPNS1. May play a role in membrane transport and/or signal transduction
Nectins (e.g., PVRL1; MIM 600644) are immunoglobulin-like adhesion molecules that int
immunoglobulin
NK-cells, CD4-and CD8 T-cells superfamily. It is a type I membrane protein. The protein may play a ro

, clone NT2RI2008942 CDON (MIM 608707) and BOC are cell surface receptors of the immunoglobulin (Ig)/fibro
brain This protein is associated with nerve growth. It is a major component of the motile "grow
ociated membrane protein.
Mediates
Belongs
selective
to the immunoglobulin
neuronal growthsuperfamily.
and axon targeting.
IgLON faContributes to the guidance of
brain, testis
Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane
CNS and in peripheral
Orphan receptor
tissues
BM CD34, different leukemia lymphoblasts
belongs to the immunoglobulin superfamily. Studies of the related genes in mouse and
encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surf
Involved
Expressed on activated in the costimulatory
B-cells, macrophages signal
and dendritic cells. essential for
T- lymphocyte activation. T-cell prolifer
pancreas, liver etc
This gene
encodes
NK-cells, T-cells, B-cells,
encodes a a type
dendtritic I membrane
protein
cells, monocytes that is a member of the immunoglobulin superfamil
Recombination
protein with activating proteins RAG1 and RAG2 regulate and mediate V(D)J recombination, the
encodes
protease a stefin that functions as a cysteine protease inhibitor, forming tight complexes
blood, lymph system
activity. Its
protein (BCL-6) (Zinc finger
Transcriptional
protein 51)regulator
specific (LAZ-3 protein)
that probably
(BCL-5)plays
(Zincan
finger
important
and BTB
role
domain-containing
in lymphomagenesis.
protein
Th
function has
not been
determined.
The protein
may be
useful as a
tumor
marker;
Probable
serine
whole blood etc
protease.
Placental specific, but also associated with various malignant neoplasms
NA; cDNA DKFZp761B0218 (from clone DKFZp761B0218).
otide-exchange factor 3
 A FLJ20489 fis, clone KAT08285.
e 7A isoform b
min D receptor (VDR) mRNA,
This gene
complete
encodes
cds.the nuclear hormone receptor for vitamin D3. This receptor also func
n LOC79022
) chain precursor [Contains:
This gene
Chondrocalcin].
encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cart
Highly expressed in testis. Expressed at lower levels in thymus, pancreas, spleen, liver, ovary and sma
se (EC 2.7.1.11) (PFKM protein).
d SOCS box-containing 8
n LOC387856
in DKFZp779L1853.
family 10, subfamily AD): Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal

A FLJ35421 fis, clone SMINT2001195, weakly similar to ZINC FINGER PROTEIN 202.
sphoprotein 32D Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancer

n LOC121273
 NK- cell, T-cells, B-cells
n of T cells isoform c protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases

, dendritic, macrophages
Lymphocytes proliferate and differentiate in response to various concentrations of differ
 Individual to invest
Turkish
146 153 156 186
NSP STY NSP STY NSP STY NSP

or by SIVs and by strains of HIV-2 and m-tropic HIV-1.

ved in cell cycle regulation

nd/or signal transduction. May prevent premature elimination of red blood cells. May be involved in membrane p
esion molecules that interact with afadin (AF6; MIM 159559).
he protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the i

mmunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat family involved in myogenic differentiatio
onent of the motile "growth cones" that form the tips of elongating axons.
butes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for

specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in n

ted genes in mouse and rat suggest that this gene may regulate myeloid cell activity and delivers an inhibitory
or and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the su
activation. T-cell proliferation and cytokine production is induced by the binding of CD28 or CTLA-4 to this rece
munoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two prot
e V(D)J recombination, the process by which genes for immunoglobulins and T-cell receptors are generated.
forming tight complexes with papain and the cathepsins B, H, and L

in lymphomagenesis. This protein acts as a sequence-specific repressor of transcription, and has been shown to
3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to

ar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with ach
een, liver, ovary and small intestine

se, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are m

t several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at
protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. T

s concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to t

x x
 Individual to investigate

252 332 350 204

STY NSP STY NSP STY NSP STY

y be involved in membrane permeability changes induced following virus infection. May play a role in memory

during the late phase of the immune response. It may also function in antigen presentation.

ved in myogenic differentiation

limbic system. Essential for normal growth of the hyppocampal mossy fiber projection (By similarity).

ay play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability

ty and delivers an inhibitory signal for the macrophage lineage in diverse tissues.
his receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid
f CD28 or CTLA-4 to this receptor; The B-lymphocyte activation antigen B7-1 (formerly referred to as B7) pr ovid
nd it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-assoc
are generated.

ption, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells.
acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence s

gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED conge nita

ctory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from sing le

ded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part o f
gnal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH

fic, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen recepto rs. This

x x x x x x
 Other
204 268 279 336
NSP STY NSP STY NSP STY NSP

May play a role in memory forma tion. Has a role in cell adhesion

on (By similarity).

ng membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cyt

ion may function as a myeloid downregulatory signal.

y referred to as B7) pr ovides regulatory signals for T lymphocytes as a consequence of binding to the CD28 (M
otoxic T-lymphocyte-assoc iated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal fo

sponses of B cells.
ors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nu

eoarthritis, SED conge nita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and sp

(GPCR) arising from sing le coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure

ce to PP32 and are part o f the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the enco
 ts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple ad

nity antigen recepto rs. This gene encodes a cell surface molecule which assembles with the antigen receptor of

x x x
l membrane through AUM/cytoskeletal interactions (By similarity).

nce of binding to the CD28 (MIM 186760) and CTLA4 (MIM 123890) ligands of T cells.[
en is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-assoc
 Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though th

ckler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing

smembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the r

However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been loca
his protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling

s with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependen
cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune
mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involve

addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen

s and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory

unction of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene
s into multimolecular signaling complexes located near the site of TCR engagement.

or antigen receptor-dependent stimulation.

n and diminishes the immune res ponse.
thways, such as those involved in the immune response and cancer. Mutations in this gene are associated with

e C-propeptide of this collagen mol ecule, are also associated with chondrodysplasia.

odorant signals. The olfactory receptor gene family is the largest in the genome.

protein encoded by this gene. This gene does not contain introns.
this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiat
de polymorphism in the initiation codon results in an alternate translation start site three codons downstream.
te three codons downstream. Alternative splicin g results in multiple transcript variants encoding the same prot
riants encoding the same protein.