AutismKB 2.0

Annotation Detail for SLC25A12


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Basic Information Top
Gene Symbol:SLC25A12 ( AGC1,ARALAR )
Gene Full Name: solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Band: 2q31.1
Quick LinksEntrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840; HGNC ID: 10982
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
7Phosphothreonine(PKC)HMM predict
33Phosphotyrosine(Syk)HMM predict
33Phosphotyrosine(INSR)HMM predict
47Phosphotyrosine(INSR)HMM predict
146N-linkedHMM predict
279N-linkedHMM predict
331Phosphothreonine(PKC)HMM predict
423Phosphoserine(IKK)HMM predict
423Phosphoserine(PKA)HMM predict
588Phosphoserine(CDC2)HMM predict
617O-linkedHMM predict
620Phosphothreonine(CDK)HMM predict
620Phosphothreonine(MAPK)HMM predict
620Phosphothreonine(CDC2)HMM predict
620O-linkedHMM predict
662Phosphoserine(CDK)HMM predict
662Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003705
  • Location:chr2 172349126-172458978
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 172459249 172459921 672 607
Oct1 HelaGSE14283 172466785 172466812 27 7820
PHF8 293TGSE20725 172458685 172459757 1072 243
hScc1 BcellGSE12603 172458962 172459211 249 108
p130 shRbQuiescentGSE19898 172459157 172459493 336 347
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 172368716 172368750 34 0
FOXA1 MCF7GSE15244 172372666 172373130 464 0
FoxA1 MCF7MACSdata 172362970 172363167 197 0
H3K4me2 HCT116GSE10453 172457993 172458671 678 0
H3K4me3 colorectalcancer 172457835 172458705 870 0
H3ac HepG2E 172458249 172458743 494 0
Myc K562GSE19551 172443242 172443498 256 0
Oct1 H2O2-HelaGSE14283 172379490 172379521 31 0
Oct1 H2O2-HelaGSE14283 172412213 172412242 29 0
Oct1 HelaGSE14283 172351713 172351743 30 0
Oct1 HelaGSE14283 172359860 172359893 33 0
Oct1 HelaGSE14283 172379486 172379525 39 0
Oct1 HelaGSE14283 172405637 172405668 31 0
Oct1 HelaGSE14283 172412213 172412242 29 0
Oct1 HelaGSE14283 172414204 172414281 77 0
Oct1 HelaGSE14283 172417047 172417076 29 0
Pol2 GM12878GSE19551 172458201 172459486 1285 0
RARA MCF7GSE15244 172362993 172363565 572 0
TAF k562GSE8489 172442864 172444306 1442 0
TAF k562GSE8489 172457712 172458781 1069 0
USF1 HepG2E 172457712 172458743 1031 0
USF2 HepG2E 172457712 172458743 1031 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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