AutismKB 2.0

Annotation Detail for RNF130


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RNF130 ( G1RZFP,GOLIATH,GP,MGC117241,MGC138647,MGC99542 )
Gene Full Name: ring finger protein 130
Band: 5q35.3
Quick LinksEntrez ID:55819; OMIM: NA; Uniprot ID:GOLI_HUMAN; ENSEMBL ID: ENSG00000113269; HGNC ID: 18280
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29N-linked (GlcNAc...) (Potential).
40N-linked (GlcNAc...).
112N-linked (GlcNAc...) (Potential).
135N-linked (GlcNAc...) (Potential).
172N-linked (GlcNAc...) (Potential).
189N-linked (GlcNAc...) (Potential).
341Phosphoserine.
Location(AA) Modifications Resource
29N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
40N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
112N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
135N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
172N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
189N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
29N-linkedHMM predict
34Phosphotyrosine(Jak)HMM predict
34Phosphotyrosine(Syk)HMM predict
40N-linkedHMM predict
135N-linkedHMM predict
145Phosphothreonine(CDK)HMM predict
282S-palmitoylHMM predict
372Phosphothreonine(MAPK)HMM predict
404IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018434
  • Location:chr5 179315079-179431714
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 179439314 179439972 658 7929
FOXA1 MCF7GSE15244 179444329 179445165 836 13033
FoxA1 MCF7MACSdata 179444861 179445103 242 13268
Nanog hESGSE18292 179442828 179443102 274 11251
Oct4 hESGSE21916 179442343 179443679 1336 11297
Sox2 hESGSE18292 179442781 179443062 281 11207
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 179334904 179335069 165 0
CTCF CD4SISSRdata 179334904 179335069 165 0
CTCF G2GSE9613 179331888 179332218 330 0
CTCF G2GSE9613 179333004 179333386 382 0
CTCF G2GSE9613 179334022 179335449 1427 0
CTCF G2GSE9613 179387066 179387447 381 0
CTCF G2GSE9613 179430733 179431901 1168 0
FoxA1 MCF7MACSdata 179428402 179428573 171 0
H3K4me2 HCT116GSE10453 179429340 179429793 453 0
H3K4me3 colorectalcancer 179429857 179430565 708 0
NRSF mAbJurkat 179411149 179411498 349 0
Oct4 ESGSE20650 179327713 179327804 91 0
PHF8 293TGSE20725 179430931 179432161 1230 0
PHF8 HeLaGSE20725 179430590 179432131 1541 0
PHF8 Hs68plusFBSGSE20725 179430507 179432071 1564 0
USF1 HepG2E 179429163 179430500 1337 0
hScc1 BcellGSE12603 179334740 179335299 559 0
hScc1 CdLSGSE12603 179334415 179335263 848 0
p63 keratinocytesGSE17611 179416062 179416886 824 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