AutismKB 2.0

Annotation Detail for RC3H1


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Basic Information Top
Gene Symbol:RC3H1 ( KIAA2025,RNF198,ROQUIN )
Gene Full Name: ring finger and CCCH-type domains 1
Band: 1q25.1
Quick LinksEntrez ID:149041; OMIM: 609424; Uniprot ID:RC3H1_HUMAN; ENSEMBL ID: ENSG00000135870; HGNC ID: 29434
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
530Phosphoserine.
535Phosphoserine.
1110Phosphoserine (By similarity).
Location(AA) Modifications Resource
1110Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
41S-palmitoylHMM predict
96Phosphotyrosine(Syk)HMM predict
122N-linkedHMM predict
326Phosphothreonine(MAPK)HMM predict
386Phosphothreonine(PKC)HMM predict
412Phosphoserine(PKA)HMM predict
416Phosphothreonine(PKC)HMM predict
417Phosphotyrosine(INSR)HMM predict
433Phosphoserine(PKB)HMM predict
439Phosphoserine(ATM)HMM predict
518Phosphoserine(CDC2)HMM predict
535Phosphoserine(IKK)HMM predict
546Phosphoserine(IKK)HMM predict
593SulfotyrosineHMM predict
597MethylarginineHMM predict
608Phosphotyrosine(Abl)HMM predict
630O-linkedHMM predict
642SulfotyrosineHMM predict
738Phosphotyrosine(SRC)HMM predict
739O-linkedHMM predict
772Phosphoserine(MAPK)HMM predict
779Phosphoserine(CDC2)HMM predict
779Phosphoserine(CDK)HMM predict
779O-linkedHMM predict
807Phosphotyrosine(INSR)HMM predict
808Phosphoserine(ATM)HMM predict
824Phosphothreonine(PKC)HMM predict
910N-linkedHMM predict
926Phosphoserine(CDC2)HMM predict
926O-linkedHMM predict
929Phosphoserine(IKK)HMM predict
936Phosphoserine(ATM)HMM predict
1006O-linkedHMM predict
1006Phosphoserine(ATM)HMM predict
1026Phosphoserine(CK1)HMM predict
1058N-linkedHMM predict
1059Phosphothreonine(CK2)HMM predict
1088N-linkedHMM predict
1102N-linkedHMM predict
1108N-linkedHMM predict
1120N-linkedHMM predict
1122Phosphoserine(ATM)HMM predict
1128Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172071
  • Location:chr1 172172539-172228832
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 172238621 172238868 247 9912
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 172170231 172170671 440 2089
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 172211937 172212028 91 0
ER Fulvestrant-MCF7GSE14664 172226485 172226526 41 0
Oct1 H2O2-HelaGSE14283 172200452 172200482 30 0
Oct1 HelaGSE14283 172191289 172191353 64 0
Oct1 HelaGSE14283 172200440 172200482 42 0
Oct1 HelaGSE14283 172204572 172204603 31 0
Oct1 HelaGSE14283 172214647 172214693 46 0
Oct1 HelaGSE14283 172226477 172226537 60 0
p63 keratinocytesGSE17611 172182051 172182752 701 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 20412057
hsa-miR-101 hsa-mir-101-2 9 20412057
hsa-miR-146a hsa-mir-146a 5 19995741
hsa-miR-146a* hsa-mir-146a 5 19995741
hsa-miR-17 hsa-mir-17 13 19995741
hsa-miR-17* hsa-mir-17 13 19995741
hsa-miR-181a hsa-mir-181a-2 9 19811318
hsa-miR-181a hsa-mir-181a-1 1 19811318
hsa-miR-181a* hsa-mir-181a-1 1 19811318
hsa-miR-181a-2* hsa-mir-181a-2 9 19811318
hsa-miR-181b hsa-mir-181b-1 1 19811318
hsa-miR-181b hsa-mir-181b-2 9 19811318
hsa-miR-181c hsa-mir-181c 19 19811318
hsa-miR-181c* hsa-mir-181c 19 19811318
hsa-miR-181d hsa-mir-181d 19 19811318
hsa-miR-186 hsa-mir-186 1 19811318
hsa-miR-186* hsa-mir-186 1 19811318
hsa-miR-590-3p hsa-mir-590 7 19811318
hsa-miR-92a hsa-mir-92a-1 13 19995741
hsa-miR-92a hsa-mir-92a-2 X 19995741
No data
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