AutismKB 2.0

Annotation Detail for SLC25A30


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC25A30 ( KMCP1 )
Gene Full Name: solute carrier family 25, member 30
Band: 13q14.13
Quick LinksEntrez ID:253512; OMIM: 610793; Uniprot ID:KMCP1_HUMAN; ENSEMBL ID: ENSG00000174032; HGNC ID: 27371
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001010875
  • Location:chr13 44868043-44890514
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 44890225 44890943 718 70
RARG MCF7GSE15244 44908440 44908848 408 18130
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44866194 44866396 202 1749
CTCF CD4SISSRdata 44866194 44866396 202 1749
CTCF HelaGSE12889 44866221 44866388 167 1739
CTCF G2GSE9613 44863235 44863632 397 4610
CTCF G2GSE9613 44866312 44866604 292 1586
KLF4 hESGSE17917 44866208 44866368 160 1756
Oct1 H2O2-HelaGSE14283 44848024 44848062 38 20001
hScc1 CdLSGSE12603 44866242 44866496 254 1675
hScc1 G2GSE9613 44866158 44866640 482 1645
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44890097 44890899 802 0
Oct1 HelaGSE14283 44880546 44880706 160 0
Oct1 HelaGSE14283 44880876 44881041 165 0
P300 T0-glioblastomaGSE21026 44868034 44869409 1375 0
RARG MCF7GSE15244 44886813 44887542 729 0
hScc1 BcellGSE12603 44889833 44890817 984 0
hScc1 G2GSE9613 44890097 44890899 802 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
167 Unknown MicroArray miR-1 SLC25A30 n_a 15685193
254 Unknown MicroArray miR-124 SLC25A30 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000174032 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000174032 G1-to-S transition n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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
7155 HTC chr13 44874256 44881409 244 mRNA SLC25A30 chr13 44868043 44890515Sense/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