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
Post Translation Modification Top
Location(AA) Modification
55Effector region (By similarity).
82Phosphothreonine (By similarity).
193Phosphoserine.
212Cysteine methyl ester (By similarity).
Location(AA) Modifications Resource
210S-geranylgeranyl cysteine (Bysimilarity).Swiss-Prot 53.0
212S-geranylgeranyl cysteine (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphotyrosine(Syk)HMM predict
131N-linkedHMM predict
136Phosphoserine(CK1)HMM predict
142Phosphoserine(PKG)HMM predict
167Phosphoserine(CK2)HMM predict
212S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198490
  • Location:chr3 130289107-130323308
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 130323862 130325094 1232 1170
H3ac HepG2E 130324322 130325132 810 1419
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 130286954 130288061 1107 1600
P300 T30-glioblastomaGSE21026 130278594 130279272 678 10175
Stat6 IL-4-hr4GSE17850 130288274 130288943 669 499
hScc1 BcellGSE12603 130286989 130288385 1396 1421
p63 keratinocytesGSE17611 130288569 130289203 634 222
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 130289476 130290271 795 0
CTCF G2GSE9613 130290797 130291500 703 0
CTCF G2GSE9613 130291913 130292888 975 0
CTCF G2GSE9613 130297049 130297175 126 0
CTCF G2GSE9613 130305408 130305917 509 0
CTCF G2GSE9613 130308514 130308800 286 0
CTCF G2GSE9613 130309329 130309963 634 0
CTCF G2GSE9613 130321177 130321792 615 0
CTCF G2GSE9613 130322421 130323158 737 0
FOXA1 MCF7GSE15244 130306459 130306709 250 0
FOXA1 MCF7GSE15244 130320688 130321513 825 0
FOXA1 MCF7GSE15244 130321828 130322467 639 0
H3K4me3 colorectalcancer 130321792 130322173 381 0
H3ac HepG2E 130289403 130290597 1194 0
H3ac HepG2E 130320193 130322421 2228 0
KLF4 hESGSE17917 130322590 130322744 154 0
Myc K562GSE19551 130313914 130314285 371 0
P300 T30-glioblastomaGSE21026 130313647 130314397 750 0
RARA MCF7GSE15244 130320400 130320915 515 0
RARA MCF7GSE15244 130321757 130322200 443 0
RARG MCF7GSE15244 130306423 130306709 286 0
RARG MCF7GSE15244 130315842 130316335 493 0
hScc1 BcellGSE12603 130292391 130292888 497 0
hScc1 BcellGSE12603 130304589 130305068 479 0
hScc1 BcellGSE12603 130309159 130309826 667 0
hScc1 BcellGSE12603 130321177 130322012 835 0
hScc1 BcellGSE12603 130322636 130323158 522 0
hScc1 CdLSGSE12603 130322173 130323158 985 0
hScc1 G2GSE9613 130289476 130290124 648 0
p130 shRbQuiescentGSE19898 130321841 130322240 399 0
Validated miRNA targets Top
Cis-Nats regulation 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