AutismKB 2.0

Annotation Detail for GIT1


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Basic Information Top
Gene Symbol:GIT1 ( - )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 1
Band: 17q11.2
Quick LinksEntrez ID:28964; OMIM: 608434; Uniprot ID:GIT1_HUMAN; ENSEMBL ID: ENSG00000108262; HGNC ID: 4272
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
blastocyst2 / 6231932
fetus39 / 56401269
neonate1 / 3109732
infant2 / 2362084
juvenile4 / 5555671
adult129 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma8 / 8282396
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor13 / 26384549
glioma14 / 106883130
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor7 / 9635972
lung tumor21 / 103127203
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal227 / 336030767
ovarian tumor11 / 76682143
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor11 / 12494988
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites4 / 4001599
bladder1 / 2975733
blood8 / 12347864
bone8 / 71655111
bone marrow3 / 4880161
brain118 / 1100989107
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye19 / 21105490
heart6 / 8962666
intestine13 / 23447255
kidney6 / 21177728
larynx0 / 241450 
liver7 / 20774333
lung37 / 336974109
lymph1 / 4427022
lymph node9 / 9161098
mammary gland12 / 15327178
mouth2 / 6705229
muscle21 / 107715194
nerve1 / 1576863
ovary12 / 102051117
pancreas18 / 21481283
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate6 / 18934531
salivary gland0 / 201550 
skin14 / 21057466
spleen3 / 5395255
stomach0 / 966190 
testis23 / 33044269
thymus9 / 81131110
thyroid2 / 4747342
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord2 / 13680146
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218030_at
Cell line Expression level Expression bar
721_B_lymphoblasts142.95
Adipocyte93.35
AdrenalCortex90.9
Adrenalgland102.6
Amygdala216
Appendix39.45
AtrioventricularNode61.8
BDCA4+_DentriticCells142.45
Bonemarrow188.5
BronchialEpithelialCells59
CD105+_Endothelial177.7
CD14+_Monocytes104.8
CD19+_BCells(neg._sel.)105.05
CD33+_Myeloid233.9
CD34+176
CD4+_Tcells197.55
CD56+_NKCells157.7
CD71+_EarlyErythroid300
CD8+_Tcells132.35
CardiacMyocytes132.35
Caudatenucleus160.85
Cerebellum108.2
CerebellumPeduncles126.85
CiliaryGanglion48
CingulateCortex178.65
Colorectaladenocarcinoma160.65
DorsalRootGanglion56.95
FetalThyroid140.35
Fetalbrain149.65
Fetalliver105.85
Fetallung72.65
GlobusPallidus171.25
Heart246.7
Hypothalamus88.5
Kidney96.75
Leukemia_chronicMyelogenousK-56288.1
Leukemia_promyelocytic-HL-6073.1
Leukemialymphoblastic(MOLT-4)112.95
Liver86.2
Lung108.3
Lymphnode81.2
Lymphoma_burkitts(Daudi)108.05
Lymphoma_burkitts(Raji)193.35
MedullaOblongata113.35
OccipitalLobe152.75
OlfactoryBulb92.25
Ovary55.85
Pancreas58.7
PancreaticIslet67.85
ParietalLobe126.85
Pituitary123.6
Placenta90.45
Pons166.15
PrefrontalCortex245.7
Prostate115.6
Salivarygland56.8
SkeletalMuscle53.9
Skin88
SmoothMuscle78.7
Spinalcord76.45
SubthalamicNucleus193.5
SuperiorCervicalGanglion35.55
TemporalLobe217.25
Testis226.35
TestisGermCell104.95
TestisIntersitial192.9
TestisLeydigCell121.5
TestisSeminiferousTubule165.8
Thalamus178.85
Thymus83.4
Thyroid110.9
Tongue58.4
Tonsil82.8
Trachea104.55
TrigeminalGanglion127.1
Uterus45.75
UterusCorpus43.45
WholeBlood68.95
Wholebrain123.6
colon60.8
pineal_day203.74
pineal_night188.92
retina203.55
small_intestine55.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P100912
  • 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
Amygdala5.05 ± 0.52
Basal Forebrain4.62 ± 0.09
Basal Part of Pons4.52 ± 0.39
Cerebellar Cortex4.23 ± 0.3
Cerebellar Nuclei4.15 ± 0.44
Claustrum4.7 ± 0.6
Epithalamus4 ± 0.61
Frontal Lobe4.7 ± 0.49
Globus Pallidus3.77 ± 0.63
Hypothalamus3.96 ± 0.56
Insula4.68 ± 0.37
Limbic Lobe5.08 ± 0.44
Mesencephalon4.59 ± 0.61
Myelencephalon4.62 ± 0.54
Occipital Lobe4.46 ± 0.48
Parietal Lobe4.72 ± 0.6
Pontine Tegmentum4.66 ± 0.55
Striatum5.32 ± 0.41
Subthalamus3.94 ± 0.53
Temporal Lobe4.79 ± 0.47
Thalamus4.52 ± 0.43
White Matter3.53 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Git1CBCerebellum35.86
45.34
Git1CTXCerebral cortex100
100
Git1HIPHippocampal region85.59
100
Git1HPFHippocampal formation95.44
100
Git1HYHypothalamus48.45
40.73
Git1LSXLateral septal complex65.4
51.72
Git1MBMidbrain54.77
53.68
Git1MYMedulla66.55
78.82
Git1OLFOlfactory bulb100
100
Git1PPons58.43
66.05
Git1PALPallidum64.54
63.25
Git1RHPRetrohippocampal region100
100
Git1sAMYStriatum-like amygdalar nuclei91.47
79.28
Git1STRStriatum98.43
81.23
Git1STRdStriatum dorsal region100
87.89
Git1STRvStriatum ventral region96.64
74.58
Git1THThalamus70.61
63.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GIT1_HUMAN_209 10 209 218 QAGHHELAER PRIDE
PAp00026170 25 558 582 KGVSASAVPFTPSSPLLSCSQEGSR 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