AutismKB 2.0

Annotation Detail for RNF213


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Basic Information Top
Gene Symbol:RNF213 ( C17orf27,DKFZp762N1115,FLJ13051,KIAA1554,KIAA1618,MGC46622,MGC9929,NET57 )
Gene Full Name: ring finger protein 213
Band: 17q25.3
Quick LinksEntrez ID:57674; OMIM: NA; Uniprot ID:ALO17_HUMAN; ENSEMBL ID: ENSG00000173821,ENSG00000180843; HGNC ID: 14539
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1188Phosphoserine.
1223N6-acetyllysine.
1258Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
37N-linkedHMM predict
38N-linkedHMM predict
69Phosphoserine(IKK)HMM predict
100N-linkedHMM predict
105Phosphoserine(CK1)HMM predict
109O-linkedHMM predict
113Phosphoserine(MAPK)HMM predict
113Phosphoserine(CDC2)HMM predict
113Phosphoserine(ATM)HMM predict
113Phosphoserine(CDK)HMM predict
113Phosphoserine(IKK)HMM predict
136Phosphoserine(IKK)HMM predict
136O-linkedHMM predict
136Phosphoserine(ATM)HMM predict
144O-linkedHMM predict
148O-linkedHMM predict
148Phosphoserine(ATM)HMM predict
153O-linkedHMM predict
156Phosphothreonine(MAPK)HMM predict
156Phosphothreonine(CDK)HMM predict
188O-linkedHMM predict
188O-linkedHMM predict
217Phosphoserine(ATM)HMM predict
226O-linkedHMM predict
317Phosphothreonine(CK2)HMM predict
371Phosphoserine(PKG)HMM predict
371Phosphoserine(IKK)HMM predict
374Phosphoserine(CDC2)HMM predict
462Phosphotyrosine(SRC)HMM predict
462SulfotyrosineHMM predict
466SulfotyrosineHMM predict
653Phosphoserine(CK2)HMM predict
654Phosphoserine(ATM)HMM predict
728Phosphoserine(CDC2)HMM predict
737Phosphothreonine(CK2)HMM predict
841Phosphoserine(MAPK)HMM predict
896N-linkedHMM predict
897N-linkedHMM predict
931Phosphothreonine(PKC)HMM predict
972Phosphoserine(ATM)HMM predict
1009Phosphoserine(IKK)HMM predict
1073N-linkedHMM predict
1126Phosphoserine(PKG)HMM predict
1128Phosphoserine(ATM)HMM predict
1128Phosphoserine(CDC2)HMM predict
1183Phosphoserine(IKK)HMM predict
1192N-linkedHMM predict
1200Phosphoserine(PKG)HMM predict
1205Phosphoserine(ATM)HMM predict
1258Phosphoserine(CK2)HMM predict
1258Phosphoserine(CK1)HMM predict
1264Phosphoserine(CK1)HMM predict
1380N-linkedHMM predict
1384N-linkedHMM predict
1392Phosphothreonine(PKC)HMM predict
1392Phosphothreonine(PKA)HMM predict
1504Phosphotyrosine(Syk)HMM predict
1504Phosphotyrosine(Jak)HMM predict
1533Phosphothreonine(PKC)HMM predict
1544PhenylalanineHMM predict
1545PhenylalanineHMM predict
1547SerineHMM predict
1547PhenylalanineHMM predict
1549PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020954
  • Location:chr17 75849261-75909854
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM10847GSE19485 75848182 75850305 2123 18
NFkBII GM15510GSE19485 75848252 75849866 1614 203
NRSF JurkatGSE13047 75848294 75848949 655 640
NRSF-mono JurkatQuESTdata 75848329 75848910 581 642
NRSF-poly JurkatQuESTdata 75848383 75848949 566 596
hScc1 BcellGSE12603 75848362 75848872 510 645
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75872967 75873118 151 0
CTCF G2GSE9613 75877456 75877675 219 0
ETS1 JurkatGSE17954 75849693 75850355 662 0
Fos K562GSE19551 75859088 75859716 628 0
FoxA1 MCF7MACSdata 75849697 75850030 333 0
H3K4me3 colorectalcancer 75850461 75850801 340 0
H3ac HepG2E 75850429 75850801 372 0
H3ac HepG2E 75852279 75853392 1113 0
Myc K562GSE19551 75872959 75873512 553 0
Pol2 GM12878GSE19551 75851673 75852378 705 0
RARG MCF7GSE15244 75905296 75905847 551 0
Rb QuiescentGSE19898 75868410 75868612 202 0
TAF k562GSE8489 75858220 75858450 230 0
TFAP2C MCF7GSE21234 75850588 75851166 578 0
TFAP2C MCF7GSE21234 75866773 75867162 389 0
USF1 HepG2E 75849924 75850102 178 0
USF1 HepG2E 75850429 75850801 372 0
USF1 HepG2E 75851197 75853392 2195 0
USF2 HepG2E 75850429 75850801 372 0
USF2 HepG2E 75852131 75853392 1261 0
hScc1 BcellGSE12603 75851125 75851958 833 0
hScc1 BcellGSE12603 75877560 75877675 115 0
hScc1 CdLSGSE12603 75849240 75850102 862 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
11719 mRNA C17orf27 chr17 75935789 75984673 559 mRNA chr17 75940933 76003513Sense/Antisense (SA) pairs

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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