AutismKB 2.0

Annotation Detail for ACTN4


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Basic Information Top
Gene Symbol:ACTN4 ( ACTININ-4,DKFZp686K23158,FSGS,FSGS1 )
Gene Full Name: actinin, alpha 4
Band: 19q13.2
Quick LinksEntrez ID:81; OMIM: 604638; Uniprot ID:ACTN4_HUMAN; ENSEMBL ID: ENSG00000130402; HGNC ID: 166
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
114N6-acetyllysine.
214N6-acetyllysine.
265Phosphotyrosine.
417N6-acetyllysine.
592N6-acetyllysine.
625N6-acetyllysine.
Location(AA) Modifications Resource
159PhosphoserinePhospho.ELM 6.0
265Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
31Phosphotyrosine(INSR)HMM predict
159Phosphoserine(CK2)HMM predict
173S-palmitoylHMM predict
259Phosphothreonine(PKC)HMM predict
298Phosphotyrosine(Syk)HMM predict
423Phosphoserine(PKG)HMM predict
485SulfotyrosineHMM predict
486Phosphotyrosine(EGFR)HMM predict
611Phosphotyrosine(Syk)HMM predict
611Phosphotyrosine(Abl)HMM predict
612O-linkedHMM predict
680N-linkedHMM predict
726N-linkedHMM predict
763Phosphoserine(ATM)HMM predict
821N-linkedHMM predict
842O-linkedHMM predict
905LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004924
  • Location:chr19 43830166-43913009
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 43829603 43830473 870 129
KLF4 hESGSE17917 43829814 43830144 330 188
Oct4 hESGSE17917 43827427 43827711 284 2598
Rb SenescentGSE19898 43829636 43830402 766 148
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43912266 43912463 197 0
CTCF CD4SISSRdata 43912266 43912463 197 0
CTCF G2GSE9613 43886037 43886485 448 0
CTCF G2GSE9613 43899314 43899567 253 0
CTCF G2GSE9613 43912152 43912728 576 0
ER Breast-CancerGSE22609 43896887 43897525 638 0
ER MCF7GSE19013 43896677 43897544 867 0
FOXA1 MCF7GSE15244 43830405 43830987 582 0
FOXA1 MCF7GSE15244 43840941 43841472 531 0
FOXA1 MCF7GSE15244 43841849 43842179 330 0
FoxA1 MCF7MACSdata 43841087 43841506 419 0
Gata2 K562GSE18868 43858451 43859390 939 0
H3K4me3 colorectalcancer 43830346 43832489 2143 0
H3ac HepG2E 43830376 43833192 2816 0
H3ac HepG2E 43833510 43834080 570 0
H3ac HepG2E 43835582 43835767 185 0
H3ac HepG2E 43867739 43868634 895 0
Myc hESGSE17917 43866820 43867223 403 0
Oct1 H2O2-HelaGSE14283 43833895 43833924 29 0
Oct1 H2O2-HelaGSE14283 43859332 43859362 30 0
Oct1 H2O2-HelaGSE14283 43904271 43904303 32 0
Oct1 HelaGSE14283 43834596 43834634 38 0
Oct1 HelaGSE14283 43855012 43855048 36 0
Oct1 HelaGSE14283 43859333 43859364 31 0
PHF8 HeLaGSE20725 43829621 43830728 1107 0
PHF8 Hs68plusFBSGSE20725 43829705 43830762 1057 0
PolII HeLaGSE12783 43829720 43833245 3525 0
RARA MCF7GSE15244 43865973 43866797 824 0
RARA MCF7GSE15244 43896686 43897296 610 0
SRF HelaGSE8489 43848737 43849711 974 0
SRF HelaGSE8489 43864977 43866768 1791 0
SRF k562GSE8489 43856714 43858048 1334 0
STAT1 HeLaGSE12782 43848035 43850811 2776 0
STAT1 HeLaGSE12783 43846804 43850811 4007 0
TFAP2C MCF7GSE21234 43832159 43833148 989 0
TFAP2C MCF7GSE21234 43840239 43840774 535 0
TFAP2C MCF7GSE21234 43844516 43844986 470 0
TFAP2C MCF7GSE21234 43895458 43896143 685 0
USF1 HepG2E 43862980 43863264 284 0
USF1 HepG2E 43863728 43864283 555 0
USF1 HepG2E 43864977 43867372 2395 0
USF2 HepG2E 43865328 43866926 1598 0
USF2 HepG2E 43883126 43884483 1357 0
hScc1 BcellGSE12603 43830211 43830644 433 0
hScc1 BcellGSE12603 43864977 43865293 316 0
hScc1 BcellGSE12603 43881538 43881849 311 0
hScc1 BcellGSE12603 43901269 43902036 767 0
hScc1 BcellGSE12603 43910480 43910993 513 0
hScc1 BcellGSE12603 43912152 43912766 614 0
hScc1 CdLSGSE12603 43912069 43912728 659 0
p130 QuiescentGSE19898 43840209 43840413 204 0
p130 QuiescentGSE19898 43840445 43840834 389 0
p130 SenescentGSE19898 43840320 43840744 424 0
p130 SenescentGSE19898 43840826 43841018 192 0
p130 SenescentGSE19898 43841115 43841393 278 0
p63 keratinocytesGSE17611 43880819 43882110 1291 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
13178 mRNA ACTN4 chr19 43830166 43913010 339 mRNA CAPN12 chr19 43912671 43926954Sense/Antisense (SA) pairs

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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