AutismKB 2.0

Annotation Detail for ARHGAP30


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Basic Information Top
Gene Symbol:ARHGAP30 ( FLJ00267,FLJ44128 )
Gene Full Name: Rho GTPase activating protein 30
Band: 1q23.3
Quick LinksEntrez ID:257106; OMIM: NA; Uniprot ID:RHG30_HUMAN; ENSEMBL ID: ENSG00000186517; HGNC ID: 27414
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 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult68 / 193912135
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 tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia19 / 95842198
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma8 / 71755111
non-neoplasia6 / 9725061
normal118 / 336030735
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood32 / 123478259
bone0 / 716550 
bone marrow6 / 48801122
brain9 / 11009898
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart3 / 8962633
intestine6 / 23447225
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph6 / 44270135
lymph node12 / 91610130
mammary gland2 / 15327113
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta4 / 28082514
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen19 / 53952352
stomach0 / 966190 
testis1 / 3304423
thymus24 / 81131295
thyroid1 / 4747321
tonsil2 / 16999117
trachea4 / 5241376
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P911231
  • 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
Amygdala2.22 ± 1.23
Basal Forebrain1.57 ± 0.24
Basal Part of Pons1.57 ± 0.71
Cerebellar Cortex1.92 ± 0.79
Cerebellar Nuclei1.95 ± 0.68
Claustrum2.62 ± 0.78
Epithalamus1.56 ± 0.84
Frontal Lobe1.6 ± 0.89
Globus Pallidus2.05 ± 0.62
Hypothalamus1.76 ± 0.91
Insula1.41 ± 0.61
Limbic Lobe1.66 ± 0.83
Mesencephalon1.89 ± 0.96
Myelencephalon1.76 ± 0.81
Occipital Lobe1.69 ± 0.73
Parietal Lobe1.85 ± 0.99
Pontine Tegmentum1.75 ± 0.75
Striatum1.69 ± 0.81
Subthalamus1.82 ± 0.67
Temporal Lobe1.67 ± 0.91
Thalamus1.66 ± 0.71
White Matter3.45 ± 1.79
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Arhgap30CBCerebellum0.38
0.56
Arhgap30CTXCerebral cortex0.25
0.36
Arhgap30HIPHippocampal region0.13
0.29
Arhgap30HPFHippocampal formation0.2
0.39
Arhgap30HYHypothalamus0.03
0.03
Arhgap30LSXLateral septal complex0.16
0.09
Arhgap30MBMidbrain0.16
0.42
Arhgap30MYMedulla0.35
0.52
Arhgap30OLFOlfactory bulb0.32
0.28
Arhgap30PPons0.14
0.32
Arhgap30PALPallidum0.11
0.14
Arhgap30RHPRetrohippocampal region0.29
0.53
Arhgap30sAMYStriatum-like amygdalar nuclei0.07
0.03
Arhgap30STRStriatum0.21
0.22
Arhgap30STRdStriatum dorsal region0.26
0.29
Arhgap30STRvStriatum ventral region0.14
0.07
Arhgap30THThalamus0.13
0.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002069 19 749 767 EIEREEDEQREEAQVEAGR 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