AutismKB 2.0

Annotation Detail for SACS


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Basic Information Top
Gene Symbol:SACS ( ARSACS,DKFZp686B15167,DNAJC29 )
Gene Full Name: spastic ataxia of Charlevoix-Saguenay (sacsin)
Band: 13q12.12
Quick LinksEntrez ID:26278; OMIM: 604490; Uniprot ID:SACS_HUMAN; ENSEMBL ID: ENSG00000151835; HGNC ID: 10519
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
338Phosphoserine.
943N6-acetyllysine.
4263Phosphothreonine (By similarity).
4264Phosphoserine.
4333Phosphotyrosine.
Location(AA) Modifications Resource
4263Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
17S-palmitoylHMM predict
138Phosphotyrosine(SRC)HMM predict
237Phosphoserine(CK1)HMM predict
280Phosphoserine(ATM)HMM predict
280Phosphoserine(IKK)HMM predict
367N-linkedHMM predict
437Phosphothreonine(PKC)HMM predict
457O-linkedHMM predict
615O-linkedHMM predict
618O-linkedHMM predict
621Phosphothreonine(CDC2)HMM predict
621Phosphothreonine(CDK)HMM predict
627Phosphothreonine(PKA)HMM predict
696Phosphotyrosine(Jak)HMM predict
727Phosphothreonine(PKC)HMM predict
870Phosphoserine(MAPK)HMM predict
931N-linkedHMM predict
969Phosphoserine(CK2)HMM predict
991S-palmitoylHMM predict
1019N-linkedHMM predict
1025N-linkedHMM predict
1043Phosphoserine(ATM)HMM predict
1072Phosphotyrosine(INSR)HMM predict
1072Phosphotyrosine(SRC)HMM predict
1080Phosphoserine(CDC2)HMM predict
1138N-linkedHMM predict
1150Phosphothreonine(PKC)HMM predict
1241Phosphoserine(CK1)HMM predict
1245Phosphotyrosine(Syk)HMM predict
1245SulfotyrosineHMM predict
1329Phosphoserine(CK1)HMM predict
1348Phosphoserine(CK2)HMM predict
1374Phosphoserine(CDC2)HMM predict
1374Phosphoserine(CDK)HMM predict
1377Phosphothreonine(MAPK)HMM predict
1461Phosphothreonine(PKC)HMM predict
1473Phosphoserine(ATM)HMM predict
1489N-linkedHMM predict
1524Phosphoserine(IKK)HMM predict
1526N-linkedHMM predict
1527N-linkedHMM predict
1528Phosphoserine(ATM)HMM predict
1537N-linkedHMM predict
1640N-linkedHMM predict
1657Phosphoserine(IKK)HMM predict
1670Phosphotyrosine(Jak)HMM predict
1704N-linkedHMM predict
1726Phosphothreonine(MAPK)HMM predict
1809Phosphoserine(CK1)HMM predict
1809Phosphoserine(ATM)HMM predict
1835Phosphoserine(CK2)HMM predict
1909N-linkedHMM predict
1943Phosphotyrosine(Syk)HMM predict
1943SulfotyrosineHMM predict
2015Phosphotyrosine(Jak)HMM predict
2097S-palmitoylHMM predict
2139Phosphotyrosine(INSR)HMM predict
2139Phosphotyrosine(Syk)HMM predict
2169Phosphoserine(PKG)HMM predict
2169Phosphoserine(CAMK2)HMM predict
2169Phosphoserine(CK2)HMM predict
2174N-linkedHMM predict
2212Phosphothreonine(PKC)HMM predict
2314N-linkedHMM predict
2317N-linkedHMM predict
2353Phosphotyrosine(EGFR)HMM predict
2529Phosphothreonine(PKC)HMM predict
2617Phosphotyrosine(Abl)HMM predict
2662Phosphoserine(CDC2)HMM predict
2694N-linkedHMM predict
2715Phosphoserine(CK1)HMM predict
2715Phosphoserine(ATM)HMM predict
2814N-linkedHMM predict
2822N-linkedHMM predict
2947Phosphothreonine(MAPK)HMM predict
3021N-linkedHMM predict
3044N-linkedHMM predict
3107Phosphoserine(CDC2)HMM predict
3256Phosphoserine(ATM)HMM predict
3422Phosphoserine(CAMK2)HMM predict
3499Phosphotyrosine(Jak)HMM predict
3505Phosphoserine(PKG)HMM predict
3505Phosphoserine(CK2)HMM predict
3596Phosphoserine(ATM)HMM predict
3613Phosphothreonine(PKC)HMM predict
3615N-linkedHMM predict
3674N-linkedHMM predict
3757N-linkedHMM predict
3876Phosphothreonine(PKC)HMM predict
4055Phosphothreonine(PKC)HMM predict
4093Phosphoserine(CK1)HMM predict
4093PhosphoserineHMM predict
4146Phosphoserine(ATM)HMM predict
4149Phosphoserine(CK1)HMM predict
4166SulfotyrosineHMM predict
4194Phosphotyrosine(INSR)HMM predict
4194SulfotyrosineHMM predict
4200O-linkedHMM predict
4252Phosphoserine(CK1)HMM predict
4257O-linkedHMM predict
4260O-linkedHMM predict
4260O-linkedHMM predict
4260Phosphoserine(CK1)HMM predict
4261O-linkedHMM predict
4261Phosphothreonine(CDC2)HMM predict
4261Phosphothreonine(MAPK)HMM predict
4261Phosphothreonine(CDK)HMM predict
4263O-linkedHMM predict
4264O-linkedHMM predict
4264Phosphoserine(CDC2)HMM predict
4264Phosphoserine(MAPK)HMM predict
4266O-linkedHMM predict
4285Phosphoserine(PKG)HMM predict
4289Phosphoserine(CK1)HMM predict
4290Phosphoserine(CK1)HMM predict
4291AcetyllysineHMM predict
4294PhosphoserineHMM predict
4296AcetyllysineHMM predict
4297AcetyllysineHMM predict
4312Phosphoserine(CK1)HMM predict
4381Phosphoserine(CAMK2)HMM predict
4381Phosphoserine(PKB)HMM predict
4457N-linkedHMM predict
4463N-linkedHMM predict
4477S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014363
  • Location:chr13 22800966-22840625
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22847046 22847859 813 6827
KLF4 hESGSE17917 22847435 22847662 227 6923
KLF4 hESGSE17917 22850476 22850645 169 9935
hScc1 BcellGSE12603 22847046 22847932 886 6864
hScc1 CdLSGSE12603 22847023 22847766 743 6769
hScc1 G2GSE9613 22847082 22847893 811 6862
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 22820649 22821295 646 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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