AutismKB 2.0

Annotation Detail for SH2D3C


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Basic Information Top
Gene Symbol:SH2D3C ( CHAT,FLJ39664,NSP3,PRO34088 )
Gene Full Name: SH2 domain containing 3C
Band: 9q34.11
Quick LinksEntrez ID:10044; OMIM: 604722; Uniprot ID:SH2D3_HUMAN; ENSEMBL ID: ENSG00000095370; HGNC ID: 16884
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst0 / 623190 
fetus41 / 56401272
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult66 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia12 / 95842125
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal217 / 336030764
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood15 / 123478121
bone0 / 716550 
bone marrow0 / 488010 
brain68 / 110098961
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart9 / 89626100
intestine5 / 23447221
kidney10 / 21177747
larynx0 / 241450 
liver0 / 2077430 
lung23 / 33697468
lymph0 / 442700 
lymph node18 / 91610196
mammary gland1 / 1532716
mouth4 / 6705259
muscle4 / 10771537
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate5 / 18934526
salivary gland0 / 201550 
skin6 / 21057428
spleen18 / 53952333
stomach2 / 9661920
testis6 / 33044218
thymus91 / 811311121
thyroid0 / 474730 
tonsil2 / 16999117
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular6 / 51780115
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P71928
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.14 ± 0.66
Basal Forebrain3.64 ± 0.64
Basal Part of Pons4.58 ± 0.69
Cerebellar Cortex4.53 ± 0.39
Cerebellar Nuclei4.04 ± 0.54
Claustrum3.82 ± 0.89
Epithalamus3.83 ± 0.68
Frontal Lobe4.35 ± 0.64
Globus Pallidus2.88 ± 0.69
Hypothalamus3.84 ± 0.69
Insula4.43 ± 0.42
Limbic Lobe4.06 ± 0.71
Mesencephalon4.07 ± 0.74
Myelencephalon4.09 ± 0.7
Occipital Lobe3.63 ± 0.75
Parietal Lobe4.16 ± 0.63
Pontine Tegmentum4.01 ± 0.77
Striatum2.81 ± 0.8
Subthalamus4.07 ± 0.2
Temporal Lobe4.44 ± 0.5
Thalamus4.17 ± 0.69
White Matter2.53 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh2d3cCBCerebellum35.89
44.46
Sh2d3cCTXCerebral cortex71.5
57.6
Sh2d3cHIPHippocampal region25.05
29.62
Sh2d3cHPFHippocampal formation35.85
35.47
Sh2d3cHYHypothalamus29.13
23.81
Sh2d3cLSXLateral septal complex6.97
4.93
Sh2d3cMBMidbrain31.73
28.96
Sh2d3cMYMedulla32.92
37.52
Sh2d3cOLFOlfactory bulb58.16
52.71
Sh2d3cPPons28.74
31.99
Sh2d3cPALPallidum42.29
39.68
Sh2d3cRHPRetrohippocampal region60.6
48.46
Sh2d3csAMYStriatum-like amygdalar nuclei51.51
39.7
Sh2d3cSTRStriatum31.31
23.55
Sh2d3cSTRdStriatum dorsal region28.86
21.65
Sh2d3cSTRvStriatum ventral region34
24.75
Sh2d3cTHThalamus32.81
27.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00042438 33 392 424 SCALSMDQIPDLHSPMSPISESPSSPAYSTVTR Peptide Atlas
SH2D3_HUMAN_127 24 127 150 ATGPLEDTPAMEPNPSAVEVDPIR PRIDE
SH2D3_HUMAN_151 16 151 166 KPEVPTGDVEEERPPR PRIDE
SH2D3_HUMAN_191 9 191 199 YILDSSPEK PRIDE
SH2D3_HUMAN_217 8 217 224 SHAWYHGR PRIDE
SH2D3_HUMAN_228 9 228 236 EVSETLVQR PRIDE
SH2D3_HUMAN_244 14 244 257 DSLTSLGDYVLTCR PRIDE
SH2D3_HUMAN_306 16 306 321 AVSEQSGAIIYCPVNR PRIDE
SH2D3_HUMAN_425 20 425 444 VHAAPAAPSATALPASPVAR PRIDE
SH2D3_HUMAN_446 13 446 458 SSEPQLCPGSAPK PRIDE
SH2D3_HUMAN_507 13 507 519 EWAATETSSQQAR PRIDE
SH2D3_HUMAN_527 14 527 540 ELSENGAPEGDWGK PRIDE
SH2D3_HUMAN_580 9 580 588 ELLAEVDAR PRIDE
SH2D3_HUMAN_610 9 610 618 EMQTLMGVR PRIDE
SH2D3_HUMAN_662 6 662 667 AALLHK PRIDE
SH2D3_HUMAN_822 14 822 835 LLWGSQGASSSQAR PRIDE
SH2D3_HUMAN_88 8 88 95 AQNSQAAR PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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