AutismKB 2.0

Annotation Detail for SNRNP200


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Basic Information Top
Gene Symbol:SNRNP200 ( ASCC3L1,BRR2,FLJ11521,HELIC2,RP33,U5-200KD )
Gene Full Name: small nuclear ribonucleoprotein 200kDa (U5)
Band: 2q11.2
Quick LinksEntrez ID:23020; OMIM: 601664; Uniprot ID:U520_HUMAN; ENSEMBL ID: ENSG00000144028; HGNC ID: 30859
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26Phosphoserine.
225Phosphoserine.
469N6-acetyllysine.
618DEIH box.
756Phosphoserine.
922Phosphotyrosine.
924Phosphotyrosine.
926Phosphotyrosine.
971N6-acetyllysine.
1056Phosphoserine.
1176N6-acetyllysine.
1457DEVH box.
2131Phosphothreonine.
2133Phosphoserine.
2135Phosphoserine.
Location(AA) Modifications Resource
225Phosphoserine.Swiss-Prot 53.0
225PhosphoserinePhospho.ELM 6.0
756Phosphoserine.Swiss-Prot 53.0
756PhosphoserinePhospho.ELM 6.0
944Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
971Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
1056PhosphoserinePhospho.ELM 6.0
1056Phosphoserine.Swiss-Prot 53.0
1071Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
1199Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
2091Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
Location(AA) Modification Resource
207Phosphoserine(CK2)HMM predict
207Phosphoserine(CK2)HMM predict
217Phosphotyrosine(Syk)HMM predict
217Phosphotyrosine(SRC)HMM predict
217PhosphotyrosineHMM predict
217Phosphotyrosine(EGFR)HMM predict
225PhosphoserineHMM predict
339Phosphoserine(CK2)HMM predict
442Phosphotyrosine(Syk)HMM predict
442Phosphotyrosine(Jak)HMM predict
605Phosphotyrosine(EGFR)HMM predict
790Phosphothreonine(PKC)HMM predict
834Phosphotyrosine(SRC)HMM predict
995N-linkedHMM predict
1026N-linkedHMM predict
1051Phosphoserine(PKG)HMM predict
1051Phosphoserine(IKK)HMM predict
1390Phosphotyrosine(Syk)HMM predict
1390Phosphotyrosine(SRC)HMM predict
1390SulfotyrosineHMM predict
1493Phosphoserine(CK1)HMM predict
1531N-linkedHMM predict
1541Phosphoserine(CAMK2)HMM predict
1554Phosphoserine(CDC2)HMM predict
1765Phosphothreonine(PKA)HMM predict
1794Phosphoserine(CK1)HMM predict
1794Phosphoserine(CK2)HMM predict
1803PhosphoserineHMM predict
1825N-linkedHMM predict
1826SulfotyrosineHMM predict
1931Phosphoserine(CK1)HMM predict
1959Phosphotyrosine(Jak)HMM predict
2002Phosphoserine(ATM)HMM predict
2103N-linkedHMM predict
2113Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014014
  • Location:chr2 96303801-96334987
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 96334888 96335222 334 68
ETS1 JurkatGSE17954 96334425 96335850 1425 150
GABP k562GSE8489 96336721 96336940 219 1843
H3ac HepG2E 96335188 96335909 721 561
Oct4 hESGSE17917 96334949 96335330 381 152
PHF8 293TGSE20725 96334418 96335754 1336 99
PHF8 HeLaGSE20725 96334578 96335615 1037 109
Rb QuiescentGSE19898 96334827 96335284 457 68
Rb SenescentGSE19898 96334870 96335199 329 47
hScc1 BcellGSE12603 96334850 96335392 542 134
p130 QuiescentGSE19898 96335142 96335555 413 361
p130 SenescentGSE19898 96334624 96335627 1003 138
p130 shRbQuiescentGSE19898 96335054 96335582 528 331
p130 shRbSenescentGSE19898 96334687 96335416 729 64
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 96307261 96307782 521 0
CTCF G2GSE9613 96311322 96311570 248 0
GABP k562GSE8489 96332630 96333041 411 0
GABP k562GSE8489 96333372 96334888 1516 0
H3K4me3 colorectalcancer 96333372 96334888 1516 0
H3ac HepG2E 96333632 96334926 1294 0
Rb GrowingGSE19898 96334812 96335051 239 0
Rb shRbQuiescentGSE19898 96311239 96311435 196 0
TAF HelaGSE8489 96333372 96334026 654 0
TAF k562GSE8489 96333448 96333985 537 0
TFAP2C MCF7GSE21234 96321146 96321712 566 0
hScc1 BcellGSE12603 96313397 96313620 223 0
p130 QuiescentGSE19898 96334666 96335104 438 0
p130 shRbQuiescentGSE19898 96334594 96334936 342 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


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