AutismKB 2.0

Annotation Detail for SH3D19


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Basic Information Top
Gene Symbol:SH3D19 ( EBP,EVE1,Kryn,MGC105136,MGC118910,MGC118911,MGC118912,MGC118913,SH3P19 )
Gene Full Name: SH3 domain containing 19
Band: 4q31.3
Quick LinksEntrez ID:152503; OMIM: 608674; Uniprot ID:SH319_HUMAN; ENSEMBL ID: ENSG00000109686; HGNC ID: 30418
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 body5 / 7076170
blastocyst1 / 6231916
fetus11 / 56401219
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult122 / 193912162
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma11 / 82823132
colorectal tumor17 / 114246148
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal139 / 336030741
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone3 / 7165541
bone marrow2 / 4880140
brain26 / 110098923
cervix2 / 4817141
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine29 / 234472123
kidney5 / 21177723
larynx0 / 241450 
liver9 / 20774343
lung14 / 33697441
lymph0 / 442700 
lymph node0 / 916100 
mammary gland19 / 153271123
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta17 / 28082560
prostate8 / 18934542
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach8 / 9661982
testis11 / 33044233
thymus3 / 8113136
thyroid5 / 47473105
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord1 / 1368073
uterus23 / 23287898
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P33364
  • 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
Amygdala7.08 ± 0.42
Basal Forebrain7.46 ± 0.12
Basal Part of Pons7.49 ± 0.23
Cerebellar Cortex7.28 ± 0.25
Cerebellar Nuclei7.31 ± 0.27
Claustrum6.65 ± 0.54
Epithalamus7.5 ± 0.37
Frontal Lobe7.27 ± 0.38
Globus Pallidus7.85 ± 0.22
Hypothalamus7.25 ± 0.28
Insula7.18 ± 0.25
Limbic Lobe6.87 ± 0.46
Mesencephalon7.24 ± 0.38
Myelencephalon7.17 ± 0.34
Occipital Lobe6.81 ± 0.35
Parietal Lobe7.03 ± 0.43
Pontine Tegmentum7.12 ± 0.36
Striatum7.42 ± 0.43
Subthalamus7.14 ± 0.11
Temporal Lobe6.98 ± 0.34
Thalamus7.25 ± 0.43
White Matter8.5 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh3d19CBCerebellum19.03
26.25
Sh3d19CTXCerebral cortex21.63
17.13
Sh3d19HIPHippocampal region19.91
23.18
Sh3d19HPFHippocampal formation19.16
19.06
Sh3d19HYHypothalamus9.01
9.76
Sh3d19LSXLateral septal complex8.07
6.37
Sh3d19MBMidbrain6.94
6.32
Sh3d19MYMedulla15.25
18.66
Sh3d19OLFOlfactory bulb20.62
16.06
Sh3d19PPons9.03
8.53
Sh3d19PALPallidum10.19
8.85
Sh3d19RHPRetrohippocampal region17.51
13.52
Sh3d19sAMYStriatum-like amygdalar nuclei7.92
5.98
Sh3d19STRStriatum9.47
8.31
Sh3d19STRdStriatum dorsal region8.67
8.44
Sh3d19STRvStriatum ventral region13.21
9.36
Sh3d19THThalamus89.62
93.32
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