AutismKB 2.0

Annotation Detail for ARHGEF1


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Basic Information Top
Gene Symbol:ARHGEF1 ( GEF1,LBCL2,LSC,P115-RHOGEF,SUB1.5 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 1
Band: 19q13.2
Quick LinksEntrez ID:9138; OMIM: 601855; Uniprot ID:ARHG1_HUMAN; ENSEMBL ID: ENSG00000076928; HGNC ID: 681
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 body6 / 7076184
blastocyst5 / 6231980
fetus9 / 56401215
neonate0 / 310970 
infant1 / 2362042
juvenile4 / 5555671
adult156 / 193912180
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma20 / 82823241
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor2 / 2638457
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia23 / 95842239
liver tumor5 / 9635951
lung tumor15 / 103127145
lymphoma24 / 71755334
non-neoplasia0 / 972500 
normal166 / 336030749
ovarian tumor4 / 7668252
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor39 / 124949312
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood31 / 123478251
bone9 / 71655125
bone marrow6 / 48801122
brain21 / 110098919
cervix4 / 4817183
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine19 / 23447281
kidney4 / 21177718
larynx1 / 2414541
liver5 / 20774324
lung28 / 33697483
lymph17 / 44270384
lymph node15 / 91610163
mammary gland6 / 15327139
mouth1 / 6705214
muscle10 / 10771592
nerve2 / 15768126
ovary7 / 10205168
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate9 / 18934547
salivary gland0 / 201550 
skin40 / 210574189
spleen4 / 5395274
stomach6 / 9661962
testis4 / 33044212
thymus1 / 8113112
thyroid2 / 4747342
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203055_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts93.25
Adipocyte51.6
AdrenalCortex52.1
Adrenalgland46.85
Amygdala44.85
Appendix51.05
AtrioventricularNode37.95
BDCA4+_DentriticCells170.65
Bonemarrow50.55
BronchialEpithelialCells51.25
CD105+_Endothelial43
CD14+_Monocytes165.85
CD19+_BCells(neg._sel.)118.5
CD33+_Myeloid201.45
CD34+98.1
CD4+_Tcells1203.3
CD56+_NKCells386.85
CD71+_EarlyErythroid44.2
CD8+_Tcells878.95
CardiacMyocytes59.05
Caudatenucleus46.65
Cerebellum41
CerebellumPeduncles58.4
CiliaryGanglion35.3
CingulateCortex53.05
Colorectaladenocarcinoma58.75
DorsalRootGanglion38.6
FetalThyroid60.35
Fetalbrain44.85
Fetalliver37.9
Fetallung49.45
GlobusPallidus61.95
Heart73.85
Hypothalamus55.8
Kidney41.2
Leukemia_chronicMyelogenousK-56267.75
Leukemia_promyelocytic-HL-6052.55
Leukemialymphoblastic(MOLT-4)61.5
Liver61.85
Lung58.1
Lymphnode100.15
Lymphoma_burkitts(Daudi)90.65
Lymphoma_burkitts(Raji)90.3
MedullaOblongata43.6
OccipitalLobe47.05
OlfactoryBulb37.4
Ovary30.05
Pancreas48.45
PancreaticIslet50.15
ParietalLobe50.8
Pituitary56.85
Placenta52.75
Pons67.15
PrefrontalCortex46
Prostate58.05
Salivarygland41.15
SkeletalMuscle84.35
Skin38.45
SmoothMuscle49.05
Spinalcord75.45
SubthalamicNucleus58.35
SuperiorCervicalGanglion48.6
TemporalLobe47.1
Testis37.2
TestisGermCell36.7
TestisIntersitial37.75
TestisLeydigCell48.9
TestisSeminiferousTubule44.9
Thalamus62.75
Thymus56.75
Thyroid59.3
Tongue57.35
Tonsil126.75
Trachea42.15
TrigeminalGanglion50
Uterus27.65
UterusCorpus40.4
WholeBlood221.65
Wholebrain30.1
colon40.45
pineal_day88.32
pineal_night71.42
retina59.25
small_intestine40.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P202581
  • 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
Amygdala2.59 ± 1.07
Basal Forebrain2.12 ± 0.44
Basal Part of Pons2.1 ± 0.63
Cerebellar Cortex2.13 ± 0.73
Cerebellar Nuclei2.56 ± 0.75
Claustrum2.86 ± 0.84
Epithalamus2.25 ± 0.77
Frontal Lobe2.08 ± 0.74
Globus Pallidus3.15 ± 0.46
Hypothalamus1.84 ± 0.62
Insula1.8 ± 0.78
Limbic Lobe2.15 ± 0.73
Mesencephalon2.21 ± 0.81
Myelencephalon2.26 ± 0.64
Occipital Lobe2.54 ± 0.68
Parietal Lobe2.15 ± 0.73
Pontine Tegmentum2.22 ± 0.68
Striatum2.15 ± 0.71
Subthalamus1.95 ± 0.72
Temporal Lobe2.11 ± 0.71
Thalamus2.18 ± 0.72
White Matter3.84 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef1CBCerebellum56.03
70.69
Arhgef1CTXCerebral cortex100
100
Arhgef1HIPHippocampal region87
100
Arhgef1HPFHippocampal formation93.54
100
Arhgef1HYHypothalamus96.47
77.69
Arhgef1LSXLateral septal complex95.07
64.19
Arhgef1MBMidbrain100
98.89
Arhgef1MYMedulla100
100
Arhgef1OLFOlfactory bulb100
100
Arhgef1PPons95.4
100
Arhgef1PALPallidum96.06
87.2
Arhgef1RHPRetrohippocampal region100
84.26
Arhgef1sAMYStriatum-like amygdalar nuclei85.8
65.22
Arhgef1STRStriatum63.93
49.53
Arhgef1STRdStriatum dorsal region35.91
27.93
Arhgef1STRvStriatum ventral region100
79.89
Arhgef1THThalamus96.62
81.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARHG1_HUMAN_161 20 161 180 LMGMTPWEQELAQLEAWVGR PRIDE
ARHG1_HUMAN_214 13 214 226 SAAVVNAIGLYMR PRIDE
ARHG1_HUMAN_285 16 285 300 HLKAEVDAEKPGATDR PRIDE
ARHG1_HUMAN_302 9 302 310 KGGVGMPSR PRIDE
ARHG1_HUMAN_385 14 385 398 SGLELEPEEPPGWR PRIDE
ARHG1_HUMAN_416 17 416 432 RQEVISELLVTEAAHVR PRIDE
ARHG1_HUMAN_482 17 482 498 QESGYLIEEIGDVLLAR PRIDE
ARHG1_HUMAN_499 11 499 509 FDGAEGSWFQK PRIDE
ARHG1_HUMAN_519 13 519 531 QSFALEQLKAKQR PRIDE
ARHG1_HUMAN_567 18 567 584 YPLLLQSIGQNTEEPTER PRIDE
ARHG1_HUMAN_608 7 608 614 DMEDLLR PRIDE
ARHG1_HUMAN_806 23 806 828 ILSDLLPFCRPGPEGQLAATALR PRIDE
PAp00005301 19 909 927 LRPLLSQLGGNSVPQPGCT 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


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