AutismKB 2.0

Annotation Detail for SORBS1


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Basic Information Top
Gene Symbol:SORBS1 ( CAP,DKFZp451C066,DKFZp586P1422,FLAF2,FLJ12406,KIAA1296,R85FL,SH3D5,SH3P12,SORB1 )
Gene Full Name: sorbin and SH3 domain containing 1
Band: 10q24.1
Quick LinksEntrez ID:10580; OMIM: 605264; Uniprot ID:SRBS1_HUMAN; ENSEMBL ID: ENSG00000095637; HGNC ID: 14565
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult4 / 19391212
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 tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal7 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211819_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.95
Adipocyte4.95
AdrenalCortex5.9
Adrenalgland4.35
Amygdala5.2
Appendix5.2
AtrioventricularNode4.25
BDCA4+_DentriticCells5.45
Bonemarrow5.5
BronchialEpithelialCells4.95
CD105+_Endothelial5.1
CD14+_Monocytes5.4
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.3
CD34+5.95
CD4+_Tcells5.4
CD56+_NKCells6.25
CD71+_EarlyErythroid5.4
CD8+_Tcells4.75
CardiacMyocytes6.75
Caudatenucleus4.65
Cerebellum4.5
CerebellumPeduncles7.5
CiliaryGanglion3.85
CingulateCortex5.4
Colorectaladenocarcinoma5
DorsalRootGanglion4.05
FetalThyroid4.9
Fetalbrain5.1
Fetalliver4.5
Fetallung4.05
GlobusPallidus4.05
Heart9.9
Hypothalamus5.4
Kidney4.45
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.4
Leukemialymphoblastic(MOLT-4)4
Liver7.6
Lung5.6
Lymphnode4.4
Lymphoma_burkitts(Daudi)6.5
Lymphoma_burkitts(Raji)7.15
MedullaOblongata4.6
OccipitalLobe4.6
OlfactoryBulb4
Ovary3.6
Pancreas4.2
PancreaticIslet5.5
ParietalLobe5.7
Pituitary6
Placenta5.25
Pons4.95
PrefrontalCortex6.85
Prostate5.85
Salivarygland4.2
SkeletalMuscle6.7
Skin4.1
SmoothMuscle5.6
Spinalcord5.6
SubthalamicNucleus10.05
SuperiorCervicalGanglion6
TemporalLobe4.7
Testis4.35
TestisGermCell4.1
TestisIntersitial4.4
TestisLeydigCell5.05
TestisSeminiferousTubule4.35
Thalamus5.3
Thymus4
Thyroid6.1
Tongue5.25
Tonsil4.95
Trachea4.3
TrigeminalGanglion5.35
Uterus4.2
UterusCorpus4.75
WholeBlood5.5
Wholebrain4.2
colon5.75
pineal_day6.2
pineal_night5.98
retina6.125
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P202388
  • 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
Amygdala9.57 ± 0.33
Basal Forebrain9.62 ± 0.16
Basal Part of Pons8.51 ± 0.34
Cerebellar Cortex8.82 ± 0.19
Cerebellar Nuclei8.67 ± 0.26
Claustrum9.87 ± 0.31
Epithalamus10.52 ± 0.56
Frontal Lobe8.99 ± 0.39
Globus Pallidus9.42 ± 0.33
Hypothalamus9.19 ± 0.62
Insula9.01 ± 0.26
Limbic Lobe9.18 ± 0.35
Mesencephalon9.16 ± 0.39
Myelencephalon9.25 ± 0.5
Occipital Lobe9.53 ± 0.43
Parietal Lobe9.25 ± 0.42
Pontine Tegmentum9.16 ± 0.39
Striatum10.24 ± 0.46
Subthalamus8.59 ± 0.17
Temporal Lobe9.02 ± 0.34
Thalamus8.91 ± 0.23
White Matter8.67 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sorbs1CBCerebellum14.69
19.6
Sorbs1CTXCerebral cortex33.55
27.86
Sorbs1HIPHippocampal region43.14
58.8
Sorbs1HPFHippocampal formation45.27
51.85
Sorbs1HYHypothalamus8.23
6.84
Sorbs1LSXLateral septal complex11.41
10.32
Sorbs1MBMidbrain13.19
15.16
Sorbs1MYMedulla20.06
25.21
Sorbs1OLFOlfactory bulb23.56
18.43
Sorbs1PPons16.07
19.01
Sorbs1PALPallidum16.34
14.98
Sorbs1RHPRetrohippocampal region47.57
42.64
Sorbs1sAMYStriatum-like amygdalar nuclei14.26
11.08
Sorbs1STRStriatum46.16
34.09
Sorbs1STRdStriatum dorsal region55.35
41.3
Sorbs1STRvStriatum ventral region40.54
28.2
Sorbs1THThalamus32.19
29.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024353 11 1123 1133 CDDGWFVGTSR Peptide Atlas

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