AutismKB 2.0

Annotation Detail for ACO2


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Basic Information Top
Gene Symbol:ACO2 ( ACONM,MGC20605,MGC33908 )
Gene Full Name: aconitase 2, mitochondrial
Band: 22q13.2
Quick LinksEntrez ID:50; OMIM: 100850; Uniprot ID:ACON_HUMAN; ENSEMBL ID: ENSG00000100412; HGNC ID: 118
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
28Pyrrolidone carboxylic acid (By
50N6-acetyllysine.
573N6-acetyllysine.
605N6-acetyllysine.
Location(AA) Modifications Resource
28Pyrrolidone carboxylic acid (Bysimilarity).Swiss-Prot 53.0
50N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
42Phosphotyrosine(INSR)HMM predict
45SulfotyrosineHMM predict
64Phosphothreonine(PKC)HMM predict
79Phosphoserine(ATM)HMM predict
195Phosphothreonine(CDC2)HMM predict
258O-linkedHMM predict
293O-linkedHMM predict
387N-linkedHMM predict
390Phosphotyrosine(Syk)HMM predict
390Phosphotyrosine(SRC)HMM predict
390Phosphotyrosine(INSR)HMM predict
432Phosphotyrosine(Syk)HMM predict
475N-linkedHMM predict
480N-linkedHMM predict
513Phosphotyrosine(Jak)HMM predict
544Phosphotyrosine(Syk)HMM predict
559Phosphoserine(IKK)HMM predict
650Phosphotyrosine(Jak)HMM predict
665Phosphotyrosine(INSR)HMM predict
746N-linkedHMM predict
755N-linkedHMM predict
759N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001098
  • Location:chr22 40195074-40254937
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 40194209 40195711 1502 115
Rb GrowingGSE19898 40194870 40195158 288 61
TAFII hESGSE17917 40194588 40195414 826 74
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40227304 40227460 156 0
CTCF CD4SISSRdata 40227304 40227460 156 0
CTCF HelaGSE12889 40243787 40244019 232 0
CTCF G2GSE9613 40243379 40244240 861 0
CTCF G2GSE9613 40251195 40251612 417 0
Gata1 K562GSE18868 40249466 40250062 596 0
Gata2 K562GSE18868 40249495 40249979 484 0
H3K4me3 colorectalcancer 40195524 40196453 929 0
Myc K562GSE19551 40238702 40239211 509 0
Nanog hESGSE18292 40207679 40208083 404 0
Nanog hESGSE18292 40214297 40214484 187 0
Sox2 hESGSE18292 40207761 40208044 283 0
TAF k562GSE8489 40195524 40196453 929 0
hScc1 BcellGSE12603 40227322 40227479 157 0
hScc1 BcellGSE12603 40243670 40244275 605 0
hScc1 BcellGSE12603 40248957 40249906 949 0
hScc1 CdLSGSE12603 40227322 40227870 548 0
hScc1 CdLSGSE12603 40243413 40244307 894 0
hScc1 G2GSE9613 40243308 40244335 1027 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
17526 mRNA ACO2 chr22 40189628 40249492 957 mRNA POLR3H chr22 40246329 40264848Sense/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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