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
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
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
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
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.
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
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.
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.