AutismKB 2.0

Annotation Detail for SH3TC2


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Basic Information Top
Gene Symbol:SH3TC2 ( CMT4C,FLJ13605,KIAA1985,MNMN )
Gene Full Name: SH3 domain and tetratricopeptide repeats 2
Band: 5q32
Quick LinksEntrez ID:79628; OMIM: 608206; Uniprot ID:S3TC2_HUMAN; ENSEMBL ID: ENSG00000169247; HGNC ID: 29427
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 body0 / 707610 
blastocyst0 / 623190 
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult75 / 193912138
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia13 / 97250133
normal120 / 336030735
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow6 / 48801122
brain46 / 110098941
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta47 / 280825167
prostate0 / 1893450 
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach0 / 966190 
testis15 / 33044245
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P305888
  • 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
Amygdala3.53 ± 1.17
Basal Forebrain4.31 ± 0.77
Basal Part of Pons4.41 ± 0.98
Cerebellar Cortex3.3 ± 0.68
Cerebellar Nuclei5.22 ± 0.78
Claustrum3.89 ± 0.69
Epithalamus3.47 ± 1.45
Frontal Lobe4 ± 1.24
Globus Pallidus6.23 ± 0.26
Hypothalamus3.41 ± 0.98
Insula3.09 ± 1.04
Limbic Lobe3.45 ± 0.97
Mesencephalon4.24 ± 1.25
Myelencephalon4.03 ± 1.08
Occipital Lobe3.76 ± 1.12
Parietal Lobe4 ± 1.11
Pontine Tegmentum4.07 ± 0.93
Striatum4.87 ± 0.79
Subthalamus4.59 ± 1
Temporal Lobe3.66 ± 1.05
Thalamus4.57 ± 0.77
White Matter7.06 ± 1.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh3tc2CBCerebellum2.07
2.61
Sh3tc2CTXCerebral cortex0.82
0.86
Sh3tc2HIPHippocampal region0.96
0.9
Sh3tc2HPFHippocampal formation1.18
1.09
Sh3tc2HYHypothalamus0.39
0.46
Sh3tc2LSXLateral septal complex1.19
1.91
Sh3tc2MBMidbrain0.54
0.78
Sh3tc2MYMedulla0.69
0.82
Sh3tc2OLFOlfactory bulb1.27
1.7
Sh3tc2PPons0.47
0.65
Sh3tc2PALPallidum0.42
0.85
Sh3tc2RHPRetrohippocampal region1.74
1.5
Sh3tc2sAMYStriatum-like amygdalar nuclei0.42
0.77
Sh3tc2STRStriatum0.4
0.43
Sh3tc2STRdStriatum dorsal region0.38
0.33
Sh3tc2STRvStriatum ventral region0.26
0.2
Sh3tc2THThalamus0.83
0.91
Peptide Top

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