AutismKB 2.0

Annotation Detail for SORBS2


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Basic Information Top
Gene Symbol:SORBS2 ( ARGBP2,FLJ93447,KIAA0777,PRO0618 )
Gene Full Name: sorbin and SH3 domain containing 2
Band: 4q35.1
Quick LinksEntrez ID:8470; OMIM: NA; Uniprot ID:SRBS2_HUMAN; ENSEMBL ID: ENSG00000154556; HGNC ID: 24098
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult2 / 19391211
embryoid body6 / 7076184
blastocyst3 / 6231948
fetus97 / 564012171
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult225 / 1939121116
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 tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal1 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor18 / 94178191
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor49 / 263845185
glioma3 / 10688328
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor3 / 10312729
lymphoma7 / 7175597
non-neoplasia10 / 97250102
normal442 / 3360307131
ovarian tumor1 / 7668213
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer16 / 102680155
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
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 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue1 / 1310676
adrenal gland11 / 33197331
ascites0 / 400150 
bladder10 / 29757336
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain159 / 1100989144
cervix1 / 4817120
connective tissue15 / 149255100
ear1 / 1621261
embryonic tissue19 / 21572288
esophagus1 / 2020949
eye29 / 211054137
heart48 / 89626535
intestine15 / 23447263
kidney24 / 211777113
larynx0 / 241450 
liver18 / 20774386
lung15 / 33697444
lymph7 / 44270158
lymph node0 / 916100 
mammary gland25 / 153271163
mouth9 / 67052134
muscle11 / 107715102
nerve2 / 15768126
ovary4 / 10205139
pancreas29 / 214812135
parathyroid2 / 2053997
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta28 / 28082599
prostate30 / 189345158
salivary gland0 / 201550 
skin3 / 21057414
spleen8 / 53952148
stomach2 / 9661920
testis23 / 33044269
thymus4 / 8113149
thyroid12 / 47473252
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord0 / 136800 
uterus27 / 232878115
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204288_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts62.45
Adipocyte11.35
AdrenalCortex407.75
Adrenalgland441.25
Amygdala45.7
Appendix23.5
AtrioventricularNode16.25
BDCA4+_DentriticCells7.7
Bonemarrow11.95
BronchialEpithelialCells10.4
CD105+_Endothelial12.35
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)10.4
CD33+_Myeloid11.3
CD34+9.55
CD4+_Tcells12.05
CD56+_NKCells8.2
CD71+_EarlyErythroid11.85
CD8+_Tcells6.8
CardiacMyocytes19
Caudatenucleus14.75
Cerebellum9.8
CerebellumPeduncles14.7
CiliaryGanglion10.9
CingulateCortex23.85
Colorectaladenocarcinoma10.15
DorsalRootGanglion9.85
FetalThyroid541.05
Fetalbrain23.2
Fetalliver13.9
Fetallung9
GlobusPallidus18.5
Heart258.5
Hypothalamus13.1
Kidney12.45
Leukemia_chronicMyelogenousK-5628.6
Leukemia_promyelocytic-HL-607.3
Leukemialymphoblastic(MOLT-4)5.8
Liver243
Lung58.55
Lymphnode9.85
Lymphoma_burkitts(Daudi)15.05
Lymphoma_burkitts(Raji)17.3
MedullaOblongata20.35
OccipitalLobe17.75
OlfactoryBulb19.5
Ovary7.85
Pancreas44.2
PancreaticIslet69.2
ParietalLobe15.9
Pituitary92.25
Placenta32.65
Pons13.45
PrefrontalCortex156.1
Prostate225.3
Salivarygland30.7
SkeletalMuscle16.8
Skin9.7
SmoothMuscle13.1
Spinalcord12.9
SubthalamicNucleus19.15
SuperiorCervicalGanglion14.8
TemporalLobe20
Testis9
TestisGermCell9.75
TestisIntersitial10.05
TestisLeydigCell12.5
TestisSeminiferousTubule10.3
Thalamus13.25
Thymus12.4
Thyroid740
Tongue11.9
Tonsil12.25
Trachea17.5
TrigeminalGanglion15.6
Uterus22.65
UterusCorpus11.85
WholeBlood10.7
Wholebrain51.55
colon39.45
pineal_day210.38
pineal_night299.94
retina379.475
small_intestine11.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P140475
  • 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
Amygdala6.32 ± 0.53
Basal Forebrain5.64 ± 0.74
Basal Part of Pons6.57 ± 0.56
Cerebellar Cortex5.33 ± 0.43
Cerebellar Nuclei5.09 ± 0.5
Claustrum7.32 ± 0.46
Epithalamus5.85 ± 0.51
Frontal Lobe5.82 ± 0.7
Globus Pallidus4.54 ± 0.94
Hypothalamus5.38 ± 0.54
Insula6.3 ± 0.62
Limbic Lobe6.11 ± 0.6
Mesencephalon5.64 ± 0.54
Myelencephalon5.82 ± 0.72
Occipital Lobe5.6 ± 0.6
Parietal Lobe5.75 ± 0.47
Pontine Tegmentum5.54 ± 0.69
Striatum6.6 ± 0.46
Subthalamus5.35 ± 0.77
Temporal Lobe6.14 ± 0.56
Thalamus5.53 ± 0.47
White Matter3.81 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sorbs2CBCerebellum30.69
66.91
Sorbs2CTXCerebral cortex100
100
Sorbs2HIPHippocampal region100
100
Sorbs2HPFHippocampal formation100
100
Sorbs2HYHypothalamus37.74
36.73
Sorbs2LSXLateral septal complex76.58
72.49
Sorbs2MBMidbrain19.08
23.19
Sorbs2MYMedulla35.97
58.49
Sorbs2OLFOlfactory bulb100
100
Sorbs2PPons32.46
48.51
Sorbs2PALPallidum62.7
82.83
Sorbs2RHPRetrohippocampal region100
100
Sorbs2sAMYStriatum-like amygdalar nuclei100
100
Sorbs2STRStriatum100
100
Sorbs2STRdStriatum dorsal region100
100
Sorbs2STRvStriatum ventral region100
100
Sorbs2THThalamus58.21
69.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024353 11 1074 1084 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