AutismKB 2.0

Annotation Detail for ACTB


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Basic Information Top
Gene Symbol:ACTB ( PS1TP5BP1 )
Gene Full Name: actin, beta
Band: 7p22.1
Quick LinksEntrez ID:60; OMIM: 102630; Uniprot ID:ACTB_HUMAN; ENSEMBL ID: ENSG00000075624; HGNC ID: 132
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine; in Actin, cytoplasmic
2N-acetylaspartate; in Actin, cytoplasmic
53Phosphotyrosine.
73Tele-methylhistidine (By similarity).
91Phosphotyrosine.
166Phosphotyrosine.
169Phosphotyrosine.
198Phosphotyrosine.
218Phosphotyrosine.
294Phosphotyrosine.
318Phosphothreonine.
Location(AA) Modifications Resource
1N-acetylmethionine (By similarity).Swiss-Prot 53.0
2N-acetylaspartate.Swiss-Prot 53.0
73Tele-methylhistidine (By similarity).Swiss-Prot 53.0
166Phosphotyrosine.Swiss-Prot 53.0
218Phosphotyrosine.Swiss-Prot 53.0
218PhosphotyrosinePhospho.ELM 6.0
294Phosphotyrosine.Swiss-Prot 53.0
294PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
12N-linkedHMM predict
53Phosphotyrosine(Jak)HMM predict
120Phosphothreonine(PKA)HMM predict
133Phosphotyrosine(Jak)HMM predict
199Phosphoserine(IKK)HMM predict
235Phosphoserine(CK1)HMM predict
304O-linkedHMM predict
362Phosphotyrosine(Syk)HMM predict
365Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001101
  • Location:chr7 5533312-5536746
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5538213 5539275 1062 1998
CTCF G2GSE9613 5545363 5545590 227 8730
CTCF G2GSE9613 5547668 5548216 548 11196
CTCF G2GSE9613 5548870 5549112 242 12245
CTCF G2GSE9613 5552317 5552929 612 15877
CTCF G2GSE9613 5555505 5555949 444 18981
Fos K562GSE19551 5555366 5556006 640 18940
NFkBII GM10847GSE19485 5544164 5545546 1382 8109
NFkBII GM12878GSE19485 5543957 5545616 1659 8040
NFkBII GM12878GSE19485 5546975 5548815 1840 11149
NFkBII GM12892GSE19485 5544039 5545739 1700 8143
NFkBII GM12892GSE19485 5546986 5548741 1755 11117
NFkBII GM15510GSE19485 5547366 5548747 1381 11310
NFkBII GM18526GSE19485 5544044 5545613 1569 8082
NFkBII GM18526GSE19485 5547042 5548740 1698 11145
VDR GM10861-stimGSE22484 5544314 5545390 1076 8106
hScc1 BcellGSE12603 5545251 5545590 339 8674
hScc1 G2GSE9613 5547668 5548216 548 11196
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5532565 5533174 609 443
hScc1 CdLSGSE12603 5532155 5532760 605 855
p130 shRbQuiescentGSE19898 5531891 5532540 649 1097
p63 keratinocytesGSE17611 5531222 5533228 2006 1088
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5534030 5537481 3451 0
ETS1 JurkatGSE17954 5534824 5537281 2457 0
Fos K562GSE19551 5536231 5537188 957 0
H3K4me3 colorectalcancer 5534691 5535279 588 0
H3ac HepG2E 5534612 5535573 961 0
PHF8 Hs68minusFBSGSE20725 5536289 5536880 591 0
Pol2 GM12878GSE19551 5530048 5539566 9518 0
TFAP2C MCF7GSE21234 5533953 5534903 950 0
VDR GM10855-UnstimGSE22484 5529089 5539803 10714 0
VDR GM10855-stimGSE22484 5529806 5539907 10101 0
VDR GM10861-UnstimGSE22484 5528990 5539959 10969 0
VDR GM10861-stimGSE22484 5528734 5540103 11369 0
hScc1 BcellGSE12603 5535473 5536826 1353 0
hScc1 G2GSE9613 5535609 5537151 1542 0
p130 SenescentGSE19898 5534733 5535115 382 0
p130 shRbSenescentGSE19898 5534772 5535138 366 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-34a hsa-mir-34a 1 18835850
hsa-miR-34a* hsa-mir-34a 1 18835850
hsa-miR-34b hsa-mir-34b 11 18835850
hsa-miR-34b* hsa-mir-34b 11 18835850
hsa-miR-34c-3p hsa-mir-34c 11 18835850
hsa-miR-34c-5p hsa-mir-34c 11 18835850
No data
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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