AutismKB 2.0

Annotation Detail for ATXN2L


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Basic Information Top
Gene Symbol:ATXN2L ( A2D,A2LG,A2LP,A2RP )
Gene Full Name: ataxin 2-like
Band: 16p11.2
Quick LinksEntrez ID:11273; OMIM: 607931; Uniprot ID:ATX2L_HUMAN; ENSEMBL ID: ENSG00000168488; HGNC ID: 31326
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
111Phosphoserine.
118Phosphotyrosine.
238Phosphoserine.
264Phosphotyrosine.
309Phosphotyrosine.
335Phosphoserine.
339Phosphoserine.
341Phosphoserine.
348N6-acetyllysine.
349Phosphotyrosine.
361Omega-N-methylated arginine.
390Phosphoserine.
391Phosphoserine.
409Phosphoserine.
449Phosphoserine.
493Phosphoserine.
496Phosphoserine.
557Phosphoserine.
558Phosphoserine.
559Phosphoserine.
563Phosphoserine.
589Phosphoserine.
594Phosphoserine.
597Phosphoserine.
598Phosphoserine.
630Phosphoserine.
634Phosphoserine.
684Phosphoserine.
Location(AA) Modifications Resource
111Phosphoserine.Swiss-Prot 53.0
111PhosphoserinePhospho.ELM 6.0
264PhosphotyrosinePhospho.ELM 6.0
264Phosphotyrosine.Swiss-Prot 53.0
309PhosphotyrosinePhospho.ELM 6.0
309Phosphotyrosine.Swiss-Prot 53.0
339PhosphoserinePhospho.ELM 6.0
341PhosphoserinePhospho.ELM 6.0
349PhosphotyrosinePhospho.ELM 6.0
349Phosphotyrosine.Swiss-Prot 53.0
361Omega-N-methylated arginine.Swiss-Prot 53.0
391Phosphoserine.Swiss-Prot 53.0
391PhosphoserinePhospho.ELM 6.0
409PhosphoserinePhospho.ELM 6.0
409Phosphoserine.Swiss-Prot 53.0
493Phosphoserine.Swiss-Prot 53.0
496Phosphoserine.Swiss-Prot 53.0
559PhosphoserinePhospho.ELM 6.0
559Phosphoserine.Swiss-Prot 53.0
589PhosphoserinePhospho.ELM 6.0
594PhosphoserinePhospho.ELM 6.0
594Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
11O-linkedHMM predict
11Phosphoserine(IKK)HMM predict
19O-linkedHMM predict
44O-linkedHMM predict
44Phosphothreonine(PKC)HMM predict
45O-linkedHMM predict
119N-linkedHMM predict
120N-linkedHMM predict
141N-linkedHMM predict
168Phosphoserine(PKG)HMM predict
241Phosphotyrosine(INSR)HMM predict
241SulfotyrosineHMM predict
248Phosphoserine(CK1)HMM predict
264Phosphotyrosine(Abl)HMM predict
269Phosphothreonine(PKC)HMM predict
272O-linkedHMM predict
275Phosphoserine(CK1)HMM predict
306Phosphoserine(CDK)HMM predict
322Phosphothreonine(CK2)HMM predict
335Phosphoserine(PKB)HMM predict
357MethylarginineHMM predict
361MethylarginineHMM predict
370MethylarginineHMM predict
377O-linkedHMM predict
389N-linkedHMM predict
409Phosphoserine(MAPK)HMM predict
409Phosphoserine(IKK)HMM predict
421Phosphothreonine(PKC)HMM predict
423Phosphoserine(CK1)HMM predict
424Phosphoserine(CDC2)HMM predict
430O-linkedHMM predict
430Phosphoserine(CK1)HMM predict
430Phosphoserine(CK2)HMM predict
434O-linkedHMM predict
434Phosphoserine(ATM)HMM predict
434Phosphoserine(IKK)HMM predict
449Phosphoserine(CDC2)HMM predict
449Phosphoserine(CDK)HMM predict
452O-linkedHMM predict
459O-linkedHMM predict
459O-linkedHMM predict
469O-linkedHMM predict
473O-linkedHMM predict
473Phosphothreonine(PKC)HMM predict
474O-linkedHMM predict
475O-linkedHMM predict
477O-linkedHMM predict
481O-linkedHMM predict
482O-linkedHMM predict
483Phosphoserine(IKK)HMM predict
485O-linkedHMM predict
493O-linkedHMM predict
493Phosphoserine(CDC2)HMM predict
500O-linkedHMM predict
559Phosphoserine(CDC2)HMM predict
559Phosphoserine(ATM)HMM predict
594Phosphoserine(CDC2)HMM predict
594Phosphoserine(ATM)HMM predict
594PhosphoserineHMM predict
598Phosphoserine(CK1)HMM predict
604Phosphoserine(CK2)HMM predict
604Phosphoserine(ATM)HMM predict
630O-linkedHMM predict
634Phosphoserine(CDC2)HMM predict
634Phosphoserine(ATM)HMM predict
657Phosphoserine(PKG)HMM predict
667N-linkedHMM predict
676N-linkedHMM predict
679O-linkedHMM predict
680O-linkedHMM predict
681O-linkedHMM predict
681Phosphothreonine(CDK)HMM predict
683O-linkedHMM predict
684O-linkedHMM predict
684Phosphoserine(CDC2)HMM predict
684Phosphoserine(MAPK)HMM predict
684Phosphoserine(CDK)HMM predict
684PhosphoserineHMM predict
691Phosphoserine(IKK)HMM predict
736Phosphoserine(IKK)HMM predict
810Phosphoserine(ATM)HMM predict
836O-linkedHMM predict
842Phosphotyrosine(MAPK)HMM predict
842Phosphotyrosine(SRC)HMM predict
844O-linkedHMM predict
854Phosphotyrosine(Abl)HMM predict
878O-linkedHMM predict
878O-linkedHMM predict
878Phosphothreonine(MAPK)HMM predict
878PhosphothreonineHMM predict
880O-linkedHMM predict
882O-linkedHMM predict
882O-linkedHMM predict
882Phosphoserine(ATM)HMM predict
886Phosphoserine(ATM)HMM predict
892O-linkedHMM predict
892PhosphoserineHMM predict
922O-linkedHMM predict
922Phosphothreonine(CDK)HMM predict
925O-linkedHMM predict
931O-linkedHMM predict
934Phosphoserine(CDC2)HMM predict
934Phosphoserine(CDK)HMM predict
934Phosphoserine(IKK)HMM predict
938O-linkedHMM predict
996O-linkedHMM predict
1014O-linkedHMM predict
1016O-linkedHMM predict
1016Phosphoserine(IKK)HMM predict
1017O-linkedHMM predict
1017O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_145714
  • Location:chr16 28741914-28756051
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 28725971 28727083 1112 15388
H3ac HepG2E 28722353 28722654 301 19411
H3ac HepG2E 28739795 28740195 400 1920
Myc hESGSE17917 28741432 28741794 362 302
Oct1 HelaGSE14283 28735745 28735796 51 6144
P300 T30-glioblastomaGSE21026 28725905 28727172 1267 15376
PHF8 Hs68plusFBSGSE20725 28740932 28742126 1194 386
RARA MCF7GSE15244 28740984 28741329 345 758
TAF HelaGSE8489 28739795 28740173 378 1931
TAF HelaGSE8489 28740875 28741476 601 739
hScc1 BcellGSE12603 28741079 28742405 1326 173
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28753257 28753555 298 0
CTCF G2GSE9613 28754002 28754398 396 0
ETS1 JurkatGSE17954 28740997 28743601 2604 0
Fos K562GSE19551 28742436 28743733 1297 0
H3ac HepG2E 28743022 28743717 695 0
KLF4 hESGSE17917 28741744 28742138 394 0
NRSF pAbJurkat 28753170 28754731 1561 0
PHF8 293TGSE20725 28741137 28743767 2630 0
PHF8 HeLaGSE20725 28741194 28743737 2543 0
PHF8 Hs68plusFBSGSE20725 28742513 28743551 1038 0
VDR GM10861-UnstimGSE22484 28740777 28743861 3084 0
VDR GM10861-stimGSE22484 28740392 28745601 5209 0
hScc1 BcellGSE12603 28754030 28754659 629 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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