AutismKB 2.0

Annotation Detail for ARHGEF17


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Basic Information Top
Gene Symbol:ARHGEF17 ( FLJ90019,KIAA0337,P164RHOGEF,TEM4,p164-RhoGEF )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 17
Band: 11q13.4
Quick LinksEntrez ID:9828; OMIM: NA; Uniprot ID:ARHGH_HUMAN; ENSEMBL ID: ENSG00000110237; HGNC ID: 21726
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 body8 / 70761113
blastocyst0 / 623190 
fetus23 / 56401240
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult87 / 193912144
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma7 / 10688365
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal103 / 336030730
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
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 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal9 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain29 / 110098926
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye16 / 21105475
heart9 / 89626100
intestine9 / 23447238
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary10 / 10205197
pancreas6 / 21481227
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate7 / 18934536
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus16 / 23287868
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine2 / 2344728
kidney1 / 2117774
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 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203756_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.15
Adipocyte19.85
AdrenalCortex24.8
Adrenalgland35.3
Amygdala21.65
Appendix21.45
AtrioventricularNode14.9
BDCA4+_DentriticCells19.2
Bonemarrow19.05
BronchialEpithelialCells14
CD105+_Endothelial19.45
CD14+_Monocytes16.45
CD19+_BCells(neg._sel.)16.95
CD33+_Myeloid23.45
CD34+26.5
CD4+_Tcells19.05
CD56+_NKCells14.55
CD71+_EarlyErythroid18.55
CD8+_Tcells13.7
CardiacMyocytes24.05
Caudatenucleus38.3
Cerebellum27.2
CerebellumPeduncles63.2
CiliaryGanglion15.4
CingulateCortex32.35
Colorectaladenocarcinoma18.6
DorsalRootGanglion15.3
FetalThyroid44.25
Fetalbrain25.7
Fetalliver17.7
Fetallung22.65
GlobusPallidus18.7
Heart39.75
Hypothalamus53.55
Kidney24.75
Leukemia_chronicMyelogenousK-56218.2
Leukemia_promyelocytic-HL-6017.65
Leukemialymphoblastic(MOLT-4)16.25
Liver23.2
Lung35.4
Lymphnode17.5
Lymphoma_burkitts(Daudi)25
Lymphoma_burkitts(Raji)26.85
MedullaOblongata37.25
OccipitalLobe33.4
OlfactoryBulb20.4
Ovary13.65
Pancreas16.55
PancreaticIslet21.45
ParietalLobe35.55
Pituitary23.35
Placenta26.15
Pons37.55
PrefrontalCortex43.45
Prostate25.05
Salivarygland15.35
SkeletalMuscle22.15
Skin14.45
SmoothMuscle21.6
Spinalcord45.3
SubthalamicNucleus32.15
SuperiorCervicalGanglion22.15
TemporalLobe37.8
Testis16.6
TestisGermCell16.7
TestisIntersitial16.6
TestisLeydigCell19.6
TestisSeminiferousTubule17.1
Thalamus55.5
Thymus14
Thyroid27.25
Tongue21.7
Tonsil19.3
Trachea17.35
TrigeminalGanglion21.15
Uterus16
UterusCorpus18.5
WholeBlood18.55
Wholebrain30
colon19.35
pineal_day58.28
pineal_night46.74
retina33.45
small_intestine17.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P196413
  • 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
Amygdala1.99 ± 0.96
Basal Forebrain1.58 ± 0.28
Basal Part of Pons1.45 ± 0.61
Cerebellar Cortex1.47 ± 0.91
Cerebellar Nuclei1.8 ± 0.74
Claustrum2.41 ± 0.7
Epithalamus1.6 ± 0.68
Frontal Lobe1.44 ± 0.73
Globus Pallidus2.69 ± 0.89
Hypothalamus1.56 ± 0.95
Insula1.45 ± 0.74
Limbic Lobe1.8 ± 0.86
Mesencephalon1.79 ± 0.82
Myelencephalon1.7 ± 0.8
Occipital Lobe1.82 ± 0.9
Parietal Lobe1.76 ± 0.93
Pontine Tegmentum1.69 ± 0.77
Striatum1.86 ± 0.66
Subthalamus1.63 ± 0.71
Temporal Lobe1.62 ± 0.82
Thalamus1.58 ± 0.73
White Matter1.95 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgef17CBCerebellum100
100
Arhgef17CTXCerebral cortex100
100
Arhgef17HIPHippocampal region100
100
Arhgef17HPFHippocampal formation100
100
Arhgef17HYHypothalamus100
100
Arhgef17LSXLateral septal complex100
100
Arhgef17MBMidbrain100
100
Arhgef17MYMedulla92.44
100
Arhgef17OLFOlfactory bulb100
100
Arhgef17PPons83.58
100
Arhgef17PALPallidum89.53
100
Arhgef17RHPRetrohippocampal region100
100
Arhgef17sAMYStriatum-like amygdalar nuclei100
100
Arhgef17STRStriatum100
100
Arhgef17STRdStriatum dorsal region100
100
Arhgef17STRvStriatum ventral region100
100
Arhgef17THThalamus100
100
Peptide Top

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