AutismKB 2.0

Annotation Detail for RAB43


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Basic Information Top
Gene Symbol:RAB43 ( ISY1,MGC90481,RAB11B,RAB41 )
Gene Full Name: RAB43, member RAS oncogene family
Band: 3q21.3
Quick LinksEntrez ID:339122; OMIM: NA; Uniprot ID:RAB43_HUMAN; ENSEMBL ID: ENSG00000172780; HGNC ID: 19983
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
blastocyst2 / 6231932
fetus4 / 5640127
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult34 / 193912117
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 
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal64 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
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 
blood4 / 12347832
bone2 / 7165527
bone marrow0 / 488010 
brain15 / 110098913
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx1 / 2414541
liver2 / 2077439
lung12 / 33697435
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis7 / 33044221
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord2 / 13680146
uterus7 / 23287830
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_P277295
  • 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
Amygdala6.37 ± 0.53
Basal Forebrain6.24 ± 0.28
Basal Part of Pons6.44 ± 0.41
Cerebellar Cortex6.89 ± 0.24
Cerebellar Nuclei6.35 ± 0.55
Claustrum5.87 ± 0.57
Epithalamus6 ± 0.45
Frontal Lobe6.3 ± 0.38
Globus Pallidus5.58 ± 0.36
Hypothalamus6.04 ± 0.53
Insula6.65 ± 0.25
Limbic Lobe6.64 ± 0.4
Mesencephalon6.16 ± 0.54
Myelencephalon6.42 ± 0.52
Occipital Lobe6.79 ± 0.53
Parietal Lobe6.33 ± 0.36
Pontine Tegmentum6.29 ± 0.51
Striatum6.96 ± 0.6
Subthalamus6.47 ± 0.28
Temporal Lobe6.41 ± 0.44
Thalamus6.22 ± 0.41
White Matter5.55 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1810048P08RikCBCerebellum18.55
23.94
1810048P08RikCTXCerebral cortex6.46
4.38
1810048P08RikHIPHippocampal region7.88
7.12
1810048P08RikHPFHippocampal formation9.26
7.88
1810048P08RikHYHypothalamus5.8
3.98
1810048P08RikLSXLateral septal complex8.97
5.63
1810048P08RikMBMidbrain3.31
3.11
1810048P08RikMYMedulla7.97
7.9
1810048P08RikOLFOlfactory bulb12.73
8.91
1810048P08RikPPons4.33
3.94
1810048P08RikPALPallidum5.09
3.93
1810048P08RikRHPRetrohippocampal region11.73
9.02
1810048P08RiksAMYStriatum-like amygdalar nuclei5.1
3.5
1810048P08RikSTRStriatum4.66
3.12
1810048P08RikSTRdStriatum dorsal region3.15
2.2
1810048P08RikSTRvStriatum ventral region7.05
4.37
1810048P08RikTHThalamus2.73
2.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00097947 11 69 79 LQIWDTAGQER 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