ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	CKMT1A
Previous Symbol	CKMT1
Approved Name	creatine kinase, mitochondrial 1A
Previous Name	creatine kinase, mitochondrial 1 (ubiquitous)
Location	15q15
Position	chr15:43886225-43991420, +
External Links	HGNC: 31736 Entrez Gene: 548596 Ensembl: ENSG00000223572 UCSC: uc001zsn.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 16)

Literature-origin SNPs (count: 0)

LD-proxies (count: 16)

rs_ID	Location	Functional Annotation
rs8042868	Chr15:43939642(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2470121	Chr15:43937618(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2447211	Chr15:43936351(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2447208	Chr15:43933895(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12443102	Chr15:43932103(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2447193	Chr15:43929733(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2920781	Chr15:43924682(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs2927072	Chr15:43922398(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs2614811	Chr15:43913487(Fwd)	intron_variant; upstream_gene_variant
rs3101443	Chr15:43912372(Fwd)	intron_variant; upstream_gene_variant
rs2260160	Chr15:43895643(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs10518820	Chr15:43888976(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs28495368	Chr15:43895642(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2447196	Chr15:43893818(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs3097773	Chr15:43893072(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; splice_region_variant; synonymous_variant; upstream_gene_variant
rs2439	Chr15:43891512(Fwd); Chr15:43991328(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 7)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005739	mitochondrion	Cellular Component	TAS[2914937]	183
GO:0004111	creatine kinase activity	Molecular Function		1
GO:0005743	mitochondrial inner membrane	Cellular Component		44
GO:0005524	ATP binding	Molecular Function		228
GO:0006600	creatine metabolic process	Biological Process		2
GO:0034641	cellular nitrogen compound metabolic process	Biological Process		30
GO:0044281	small molecule metabolic process	Biological Process		248

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00330	Arginine and proline metabolism	13

Genes shared at least 5 GO terms with CKMT1A (count: 0)

Genes shared at least 2 KEGG pathways with CKMT1A (count: 11)

Gene Symbol	Pathway Count	Pathway List
ALDH3A2	2	Metabolic pathways; Arginine and proline metabolism;
ARG1	2	Metabolic pathways; Arginine and proline metabolism;
CKMT1B	2	Metabolic pathways; Arginine and proline metabolism;
GLUL	2	Metabolic pathways; Arginine and proline metabolism;
MAOA	2	Metabolic pathways; Arginine and proline metabolism;
MAOB	2	Metabolic pathways; Arginine and proline metabolism;
NOS1	2	Metabolic pathways; Arginine and proline metabolism;
ODC1	2	Metabolic pathways; Arginine and proline metabolism;
P4HA3	2	Metabolic pathways; Arginine and proline metabolism;
PRODH	2	Metabolic pathways; Arginine and proline metabolism;
PYCRL	2	Metabolic pathways; Arginine and proline metabolism;

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Region: chr15:43886225..43991420 View in gBrowse