AutismKB 2.0

Annotation Detail for SH3GLB1


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Basic Information Top
Gene Symbol:SH3GLB1 ( Bif-1,KIAA0491,dJ612B15.2 )
Gene Full Name: SH3-domain GRB2-like endophilin B1
Band: 1p22.3
Quick LinksEntrez ID:51100; OMIM: 609287; Uniprot ID:SHLB1_HUMAN; ENSEMBL ID: ENSG00000097033; HGNC ID: 10833
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 body7 / 7076198
blastocyst2 / 6231932
fetus59 / 564012104
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult141 / 193912172
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 tumor3 / 3436687
chondrosarcoma11 / 82823132
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor28 / 263845106
glioma7 / 10688365
head and neck tumor5 / 13630236
kidney tumor9 / 68959130
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor8 / 10312777
lymphoma4 / 7175555
non-neoplasia16 / 97250164
normal313 / 336030793
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone8 / 71655111
bone marrow1 / 4880120
brain99 / 110098989
cervix5 / 48171103
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus2 / 2020998
eye6 / 21105428
heart11 / 89626122
intestine11 / 23447246
kidney20 / 21177794
larynx0 / 241450 
liver10 / 20774348
lung34 / 336974100
lymph2 / 4427045
lymph node14 / 91610152
mammary gland10 / 15327165
mouth5 / 6705274
muscle14 / 107715129
nerve2 / 15768126
ovary3 / 10205129
pancreas18 / 21481283
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta25 / 28082589
prostate9 / 18934547
salivary gland0 / 201550 
skin12 / 21057456
spleen4 / 5395274
stomach6 / 9661962
testis53 / 330442160
thymus4 / 8113149
thyroid3 / 4747363
tonsil1 / 1699958
trachea9 / 52413171
umbilical cord0 / 136800 
uterus21 / 23287890
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210101_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts318.45
Adipocyte409.4
AdrenalCortex27.55
Adrenalgland33.85
Amygdala19.95
Appendix22.95
AtrioventricularNode37.95
BDCA4+_DentriticCells270
Bonemarrow60.05
BronchialEpithelialCells252.75
CD105+_Endothelial94.4
CD14+_Monocytes370.25
CD19+_BCells(neg._sel.)261.45
CD33+_Myeloid351.75
CD34+207.8
CD4+_Tcells102.9
CD56+_NKCells337.4
CD71+_EarlyErythroid104.75
CD8+_Tcells101.9
CardiacMyocytes268.4
Caudatenucleus26.4
Cerebellum19.1
CerebellumPeduncles32.3
CiliaryGanglion22.6
CingulateCortex32.55
Colorectaladenocarcinoma25.4
DorsalRootGanglion26.85
FetalThyroid78
Fetalbrain66.75
Fetalliver36.2
Fetallung107.95
GlobusPallidus15.55
Heart67.35
Hypothalamus40.45
Kidney23.85
Leukemia_chronicMyelogenousK-56284.2
Leukemia_promyelocytic-HL-6088
Leukemialymphoblastic(MOLT-4)80.55
Liver9.55
Lung117.75
Lymphnode92.85
Lymphoma_burkitts(Daudi)180.7
Lymphoma_burkitts(Raji)65.9
MedullaOblongata22.05
OccipitalLobe25.15
OlfactoryBulb27.5
Ovary43.4
Pancreas74.8
PancreaticIslet276.95
ParietalLobe27.15
Pituitary89.75
Placenta106.1
Pons12.3
PrefrontalCortex23.35
Prostate71.2
Salivarygland101.1
SkeletalMuscle47.35
Skin20.9
SmoothMuscle455.3
Spinalcord76.4
SubthalamicNucleus13.35
SuperiorCervicalGanglion12.6
TemporalLobe16.1
Testis430.6
TestisGermCell549.35
TestisIntersitial679.7
TestisLeydigCell643.65
TestisSeminiferousTubule377.15
Thalamus34.6
Thymus77.25
Thyroid63.55
Tongue55.75
Tonsil142.1
Trachea98.15
TrigeminalGanglion16.15
Uterus39.7
UterusCorpus33.55
WholeBlood518.45
Wholebrain35.25
colon125.6
pineal_day37.66
pineal_night23.96
retina36.425
small_intestine57.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13851_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
Amygdala7.76 ± 0.25
Basal Forebrain7.75 ± 0.18
Basal Part of Pons7.26 ± 0.37
Cerebellar Cortex7.28 ± 0.15
Cerebellar Nuclei7.27 ± 0.27
Claustrum7.24 ± 0.44
Epithalamus7.73 ± 0.2
Frontal Lobe7.56 ± 0.26
Globus Pallidus8.1 ± 0.18
Hypothalamus7.61 ± 0.27
Insula7.6 ± 0.32
Limbic Lobe7.42 ± 0.31
Mesencephalon7.53 ± 0.35
Myelencephalon7.5 ± 0.31
Occipital Lobe7.19 ± 0.28
Parietal Lobe7.45 ± 0.29
Pontine Tegmentum7.58 ± 0.26
Striatum7.83 ± 0.3
Subthalamus7.33 ± 0.06
Temporal Lobe7.54 ± 0.26
Thalamus7.53 ± 0.31
White Matter8.61 ± 0.4
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00073461 15 211 225 LLLEGISSTHAHHLR Peptide Atlas
SHLB1_HUMAN_1 21 1 21 MNIMDFNVKKLAADAGTFLSR PRIDE
SHLB1_HUMAN_1 9 1 9 MNIMDFNVK PRIDE
SHLB1_HUMAN_127 21 127 147 IGTADRELIQTSALNFLTPLR PRIDE
SHLB1_HUMAN_353 12 353 364 GKVPITYLELLN PRIDE

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


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