AutismKB 2.0

Annotation Detail for ACTN1


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Basic Information Top
Gene Symbol:ACTN1 ( FLJ40884,FLJ54432 )
Gene Full Name: actinin, alpha 1
Band: 14q24.1
Quick LinksEntrez ID:87; OMIM: 102575; Uniprot ID:ACTN1_HUMAN; ENSEMBL ID: ENSG00000072110; HGNC ID: 163
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12Phosphotyrosine; by FAK1.
50Phosphothreonine.
95N6-acetyllysine.
140Phosphoserine.
193Phosphotyrosine.
195N6-acetyllysine.
246Phosphotyrosine.
676N6-acetyllysine.
Location(AA) Modifications Resource
12Phosphotyrosine (by FAK1).Swiss-Prot 53.0
12Phosphotyrosine (FAK)Phospho.ELM 6.0
50Phosphothreonine.Swiss-Prot 53.0
50PhosphothreoninePhospho.ELM 6.0
140Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
12SulfotyrosineHMM predict
12PhosphotyrosineHMM predict
12Phosphotyrosine(Syk)HMM predict
12Phosphotyrosine(SRC)HMM predict
12Phosphotyrosine(INSR)HMM predict
140Phosphoserine(CK2)HMM predict
154S-palmitoylHMM predict
240Phosphothreonine(PKC)HMM predict
279Phosphotyrosine(Syk)HMM predict
404Phosphoserine(PKG)HMM predict
422Phosphotyrosine(Syk)HMM predict
466SulfotyrosineHMM predict
467Phosphotyrosine(Syk)HMM predict
467Phosphotyrosine(INSR)HMM predict
469Phosphoserine(CDC2)HMM predict
593O-linkedHMM predict
669Phosphoserine(CK1)HMM predict
707N-linkedHMM predict
744Phosphoserine(ATM)HMM predict
842Phosphotyrosine(INSR)HMM predict
879Phosphotyrosine(INSR)HMM predict
882PhenylalanineHMM predict
883PhenylalanineHMM predict
884PhenylalanineHMM predict
885PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001102
  • Location:chr14 68410792-68515708
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 68518818 68518859 41 3130
Fos K562GSE19551 68515511 68516212 701 153
Fos K562GSE19551 68524096 68524543 447 8611
Gata1 K562GSE18868 68515609 68515968 359 80
p130 SenescentGSE19898 68516626 68517108 482 1159
p130 shRbSenescentGSE19898 68516693 68517053 360 1165
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 68399754 68400097 343 10867
CTCF CD4SISSRdata 68399754 68400097 343 10867
CTCF HelaGSE12889 68399795 68399975 180 10908
CTCF G2GSE9613 68399690 68399855 165 11020
RNAII Tamoxifen-MCF7GSE14664 68393002 68393095 93 17744
hScc1 BcellGSE12603 68399690 68400065 375 10915
hScc1 CdLSGSE12603 68399690 68400065 375 10915
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 68448044 68448483 439 0
CTCF CD4GSE12889 68462790 68462954 164 0
CTCF CD4SISSRdata 68448044 68448483 439 0
CTCF CD4SISSRdata 68462790 68462954 164 0
CTCF HelaGSE12889 68478180 68478512 332 0
CTCF G2GSE9613 68411296 68411452 156 0
CTCF G2GSE9613 68413077 68413426 349 0
CTCF G2GSE9613 68431738 68431914 176 0
CTCF G2GSE9613 68432502 68432713 211 0
CTCF G2GSE9613 68434140 68434437 297 0
CTCF G2GSE9613 68436129 68436607 478 0
CTCF G2GSE9613 68448215 68448797 582 0
CTCF G2GSE9613 68461221 68461625 404 0
CTCF G2GSE9613 68478219 68478575 356 0
CTCF G2GSE9613 68479373 68479550 177 0
CTCF G2GSE9613 68499228 68499385 157 0
CTCF G2GSE9613 68514987 68515857 870 0
ER MCF7GSE19013 68433035 68433488 453 0
H3ac HepG2E 68512337 68514139 1802 0
Myc hESGSE17917 68498772 68499024 252 0
NRSF JurkatSISSRdata 68428700 68428824 124 0
Oct1 H2O2-HelaGSE14283 68428213 68428249 36 0
Oct1 H2O2-HelaGSE14283 68459855 68459884 29 0
Oct1 H2O2-HelaGSE14283 68514011 68514043 32 0
Oct1 HelaGSE14283 68428205 68428249 44 0
Oct1 HelaGSE14283 68459658 68459703 45 0
Oct1 HelaGSE14283 68459857 68459894 37 0
Oct1 HelaGSE14283 68476859 68476939 80 0
Oct1 HelaGSE14283 68476969 68477032 63 0
Oct1 HelaGSE14283 68478753 68478792 39 0
Oct1 HelaGSE14283 68499353 68499400 47 0
Oct1 HelaGSE14283 68514009 68514103 94 0
PHF8 HeLaGSE20725 68514022 68516592 2570 0
PolII HeLaGSE12783 68513426 68517178 3752 0
RARA MCF7GSE15244 68478338 68478910 572 0
RARG MCF7GSE15244 68438943 68439086 143 0
RARG MCF7GSE15244 68467543 68467787 244 0
RARG MCF7GSE15244 68478151 68478910 759 0
RARG MCF7GSE15244 68484058 68484338 280 0
RARG MCF7GSE15244 68501443 68501888 445 0
RARG MCF7GSE15244 68502140 68502390 250 0
RARG MCF7GSE15244 68512046 68513100 1054 0
Rb shRbSenescenceGSE19898 68435386 68435553 167 0
Stat6 IL-4-hr4GSE17850 68429028 68429580 552 0
TFAP2C MCF7GSE21234 68460687 68461480 793 0
TFAP2C MCF7GSE21234 68487228 68488041 813 0
TFAP2C MCF7GSE21234 68513766 68514548 782 0
USF1 HepG2E 68491269 68491588 319 0
hScc1 BcellGSE12603 68426773 68426983 210 0
hScc1 BcellGSE12603 68432574 68432787 213 0
hScc1 BcellGSE12603 68448215 68448500 285 0
hScc1 BcellGSE12603 68478367 68478575 208 0
hScc1 BcellGSE12603 68479373 68479623 250 0
hScc1 BcellGSE12603 68501274 68501443 169 0
hScc1 BcellGSE12603 68503475 68503830 355 0
hScc1 CdLSGSE12603 68448215 68448500 285 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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