AutismKB 2.0

Annotation Detail for SF3A3


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Basic Information Top
Gene Symbol:SF3A3 ( PRP9,PRPF9,SAP61,SF3a60 )
Gene Full Name: splicing factor 3a, subunit 3, 60kDa
Band: 1p34.3
Quick LinksEntrez ID:10946; OMIM: 605596; Uniprot ID:SF3A3_HUMAN; ENSEMBL ID: ENSG00000183431; HGNC ID: 10767
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
92N6-acetyllysine.
119N-linked (GlcNAc...).
277Phosphothreonine.
295Phosphoserine.
299Phosphoserine.
365Phosphoserine.
367Phosphoserine.
369Phosphoserine.
414Phosphotyrosine.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
277Phosphothreonine.Swiss-Prot 53.0
277PhosphothreoninePhospho.ELM 6.0
365Phosphoserine.Swiss-Prot 53.0
367Phosphoserine.Swiss-Prot 53.0
369Phosphoserine.Swiss-Prot 53.0
414Phosphotyrosine.Swiss-Prot 53.0
414PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
32Phosphothreonine(PKC)HMM predict
50Phosphotyrosine(Syk)HMM predict
50Phosphotyrosine(Jak)HMM predict
119N-linkedHMM predict
185Phosphotyrosine(Syk)HMM predict
192SulfotyrosineHMM predict
223N-linkedHMM predict
257Phosphoserine(MAPK)HMM predict
314Phosphothreonine(PKC)HMM predict
314Phosphothreonine(PKA)HMM predict
328Phosphotyrosine(SRC)HMM predict
365Phosphoserine(CK1)HMM predict
365Phosphoserine(CK2)HMM predict
367Phosphoserine(CK2)HMM predict
369Phosphoserine(CK2)HMM predict
413N-linkedHMM predict
448N-linkedHMM predict
479SulfotyrosineHMM predict
479PhosphotyrosineHMM predict
479Phosphotyrosine(INSR)HMM predict
479Phosphotyrosine(Syk)HMM predict
492Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006802
  • Location:chr1 38195240-38228347
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 38227989 38228913 924 104
CTCF CD4GSE12889 38228212 38228585 373 51
CTCF CD4SISSRdata 38228212 38228585 373 51
CTCF HelaGSE12889 38228265 38228677 412 124
CTCF JurkatGSE12889 38228270 38228590 320 83
CTCF G2GSE9613 38228156 38228547 391 4
NRSF JurkatSISSRdata 38228306 38228558 252 85
Oct4 hESGSE17917 38228185 38228581 396 36
TFAP2C MCF7GSE21234 38228042 38228665 623 6
hScc1 G2GSE9613 38228304 38228547 243 78
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 38190206 38190632 426 4822
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38213305 38213530 225 0
CTCF CD4SISSRdata 38213305 38213530 225 0
CTCF G2GSE9613 38213801 38214061 260 0
ER Fulvestrant-MCF7GSE14664 38207021 38207093 72 0
ETS1 JurkatGSE17954 38227589 38228856 1267 0
GABP k562GSE8489 38225776 38227243 1467 0
GABP k562GSE8489 38227619 38228547 928 0
H3ac HepG2E 38225776 38226531 755 0
H3ac HepG2E 38227580 38228120 540 0
P300 T0-glioblastomaGSE21026 38227928 38228743 815 0
P300 T30-glioblastomaGSE21026 38227771 38228739 968 0
RARA MCF7GSE15244 38225776 38226308 532 0
Rb SenescentGSE19898 38227590 38228643 1053 0
hScc1 BcellGSE12603 38227993 38228547 554 0
hScc1 CdLSGSE12603 38228040 38228547 507 0
p130 shRbSenescentGSE19898 38227500 38228640 1140 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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