AutismKB 2.0

Annotation Detail for ARHGAP44


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Basic Information Top
Gene Symbol:ARHGAP44 ( KIAA0672,NPC-A-10,RICH2 )
Gene Full Name: Rho GTPase activating protein 44
Band: 17p12
Quick LinksEntrez ID:9912; OMIM: NA; Uniprot ID:RHG44_HUMAN; ENSEMBL ID: ENSG00000006740; HGNC ID: 29096
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 body1 / 7076114
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult32 / 193912116
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 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal71 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain49 / 110098944
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine1 / 2344724
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung10 / 33697429
lymph2 / 4427045
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve2 / 15768126
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205414_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.75
Adipocyte6.45
AdrenalCortex7.65
Adrenalgland5.75
Amygdala80.9
Appendix7.4
AtrioventricularNode5.95
BDCA4+_DentriticCells6.25
Bonemarrow7
BronchialEpithelialCells6.25
CD105+_Endothelial6.7
CD14+_Monocytes6.8
CD19+_BCells(neg._sel.)6.9
CD33+_Myeloid7.5
CD34+7.6
CD4+_Tcells6.75
CD56+_NKCells6.85
CD71+_EarlyErythroid6.35
CD8+_Tcells5.5
CardiacMyocytes9.95
Caudatenucleus7.15
Cerebellum23.75
CerebellumPeduncles20.4
CiliaryGanglion5.2
CingulateCortex60.9
Colorectaladenocarcinoma6.35
DorsalRootGanglion5.95
FetalThyroid8.25
Fetalbrain9
Fetalliver5.6
Fetallung5.25
GlobusPallidus14.3
Heart9.3
Hypothalamus18.9
Kidney5.55
Leukemia_chronicMyelogenousK-5625.75
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)5.2
Liver9.2
Lung52.85
Lymphnode5.8
Lymphoma_burkitts(Daudi)8.45
Lymphoma_burkitts(Raji)11.3
MedullaOblongata16.9
OccipitalLobe7.15
OlfactoryBulb5.15
Ovary4.75
Pancreas5.55
PancreaticIslet7.95
ParietalLobe12.85
Pituitary20.5
Placenta7
Pons10.85
PrefrontalCortex36.2
Prostate9.1
Salivarygland5.8
SkeletalMuscle9.1
Skin6
SmoothMuscle7.45
Spinalcord7.45
SubthalamicNucleus30.15
SuperiorCervicalGanglion11.25
TemporalLobe18.25
Testis5.75
TestisGermCell5.5
TestisIntersitial5.8
TestisLeydigCell6.85
TestisSeminiferousTubule5.7
Thalamus55.85
Thymus4.85
Thyroid8.75
Tongue7.05
Tonsil6.55
Trachea5.65
TrigeminalGanglion7.45
Uterus5.45
UterusCorpus6.95
WholeBlood7.15
Wholebrain130.5
colon63
pineal_day8.34
pineal_night7.92
retina21.9
small_intestine11.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1998_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
Amygdala4.41 ± 0.74
Basal Forebrain3.39 ± 0.31
Basal Part of Pons4.84 ± 0.55
Cerebellar Cortex4.07 ± 0.81
Cerebellar Nuclei4.15 ± 0.36
Claustrum5.17 ± 1.21
Epithalamus3.12 ± 0.79
Frontal Lobe4.03 ± 0.73
Globus Pallidus3.8 ± 0.66
Hypothalamus3.56 ± 0.54
Insula3.99 ± 0.72
Limbic Lobe4.5 ± 0.77
Mesencephalon4.04 ± 0.89
Myelencephalon4.17 ± 0.72
Occipital Lobe4.96 ± 0.67
Parietal Lobe4.35 ± 0.66
Pontine Tegmentum4.17 ± 0.69
Striatum4.3 ± 0.73
Subthalamus4.01 ± 0.27
Temporal Lobe4.09 ± 0.62
Thalamus4.45 ± 0.68
White Matter2.64 ± 0.84
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AU040829CBCerebellum70.91
100
AU040829CTXCerebral cortex100
100
AU040829HIPHippocampal region96.48
100
AU040829HPFHippocampal formation100
100
AU040829HYHypothalamus85.56
85.32
AU040829LSXLateral septal complex68.23
60.62
AU040829MBMidbrain100
100
AU040829MYMedulla95.74
100
AU040829OLFOlfactory bulb100
100
AU040829PPons89.61
100
AU040829PALPallidum81.41
90.97
AU040829RHPRetrohippocampal region100
100
AU040829sAMYStriatum-like amygdalar nuclei91.82
80.35
AU040829STRStriatum63.91
56.78
AU040829STRdStriatum dorsal region49.76
43.72
AU040829STRvStriatum ventral region92.83
81.54
AU040829THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RICH2_HUMAN_1 7 1 7 MKKQFNR 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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