AutismKB 2.0

Annotation Detail for OBSCN


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Basic Information Top
Gene Symbol:OBSCN ( ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89 )
Gene Full Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Band: 1q42.13
Quick LinksEntrez ID:84033; OMIM: 608616; Uniprot ID:OBSCN_HUMAN; ENSEMBL ID: ENSG00000154358; HGNC ID: 15719
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
blastocyst4 / 6231964
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult76 / 193912139
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor13 / 13630295
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal88 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor8 / 9025788
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye4 / 21105418
heart5 / 8962655
intestine6 / 23447225
kidney2 / 2117779
larynx10 / 24145414
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth1 / 6705214
muscle21 / 107715194
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12120_PI416261804
  • 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
Amygdala3.43 ± 1.33
Basal Forebrain3.66 ± 0.61
Basal Part of Pons2.26 ± 0.61
Cerebellar Cortex3.49 ± 0.59
Cerebellar Nuclei3.04 ± 0.49
Claustrum3.54 ± 0.97
Epithalamus2.79 ± 0.68
Frontal Lobe2.69 ± 0.93
Globus Pallidus2.97 ± 0.82
Hypothalamus2.54 ± 0.58
Insula2.38 ± 0.87
Limbic Lobe2.87 ± 0.9
Mesencephalon3.38 ± 0.91
Myelencephalon3.11 ± 1.01
Occipital Lobe2.91 ± 0.95
Parietal Lobe2.98 ± 1.12
Pontine Tegmentum3.23 ± 1.13
Striatum4.85 ± 1.02
Subthalamus2.77 ± 1.07
Temporal Lobe2.89 ± 0.84
Thalamus2.9 ± 0.94
White Matter1.82 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ObscnCBCerebellum7.33
8.69
ObscnCTXCerebral cortex8.01
6.38
ObscnHIPHippocampal region7.16
7.28
ObscnHPFHippocampal formation7.21
6.59
ObscnHYHypothalamus4.3
4.77
ObscnLSXLateral septal complex0.2
0.14
ObscnMBMidbrain2.7
3.51
ObscnMYMedulla5.98
7.03
ObscnOLFOlfactory bulb10.63
7.99
ObscnPPons4.48
4.66
ObscnPALPallidum4.99
3.97
ObscnRHPRetrohippocampal region7.5
5.61
ObscnsAMYStriatum-like amygdalar nuclei1.05
0.81
ObscnSTRStriatum9.56
7.16
ObscnSTRdStriatum dorsal region12.94
9.83
ObscnSTRvStriatum ventral region7.06
4.78
ObscnTHThalamus6.69
6.49
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