AMPD3 (adenosine monophosphate deaminase 3)

Gene

• Entrez ID: 272
• Gene name: Adenosine monophosphate deaminase 3
• Gene symbol: AMPD3
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3741040	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018876	hsa-miR-335-5p	Microarray	18185580
MIRT609672	hsa-miR-543	HITS-CLIP	23313552
MIRT609671	hsa-miR-8485	HITS-CLIP	23313552
MIRT609670	hsa-miR-3143	HITS-CLIP	23313552
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT497133	hsa-miR-7975	PAR-CLIP	22291592
MIRT609670	hsa-miR-3143	HITS-CLIP	27418678
MIRT609670	hsa-miR-3143	HITS-CLIP	27418678
MIRT609672	hsa-miR-543	HITS-CLIP	27418678
MIRT609672	hsa-miR-543	HITS-CLIP	27418678
MIRT609671	hsa-miR-8485	HITS-CLIP	27418678
MIRT609671	hsa-miR-8485	HITS-CLIP	27418678
MIRT609672	hsa-miR-543	HITS-CLIP	23313552
MIRT609671	hsa-miR-8485	HITS-CLIP	23313552
MIRT609670	hsa-miR-3143	HITS-CLIP	23313552
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT613555	hsa-miR-548ac	HITS-CLIP	23824327
MIRT613554	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT613553	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT613552	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT613551	hsa-miR-548z	HITS-CLIP	23824327
MIRT613550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT613549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT613548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT613547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT613546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT613545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT613544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT609672	hsa-miR-543	HITS-CLIP	23824327
MIRT609671	hsa-miR-8485	HITS-CLIP	23824327
MIRT609670	hsa-miR-3143	HITS-CLIP	23824327
MIRT497133	hsa-miR-7975	PAR-CLIP	22291592
MIRT780634	hsa-miR-124	CLIP-seq
MIRT780635	hsa-miR-219-5p	CLIP-seq
MIRT780636	hsa-miR-3194-5p	CLIP-seq
MIRT780637	hsa-miR-3714	CLIP-seq
MIRT780638	hsa-miR-3910	CLIP-seq
MIRT780639	hsa-miR-4445	CLIP-seq
MIRT780640	hsa-miR-4477b	CLIP-seq
MIRT780641	hsa-miR-4782-3p	CLIP-seq
MIRT780642	hsa-miR-506	CLIP-seq
MIRT780643	hsa-miR-508-3p	CLIP-seq
MIRT2171109	hsa-miR-106a	CLIP-seq
MIRT2171110	hsa-miR-106b	CLIP-seq
MIRT2171111	hsa-miR-130a	CLIP-seq
MIRT2171112	hsa-miR-130b	CLIP-seq
MIRT2171113	hsa-miR-148a	CLIP-seq
MIRT2171114	hsa-miR-148b	CLIP-seq
MIRT2171115	hsa-miR-152	CLIP-seq
MIRT2171116	hsa-miR-17	CLIP-seq
MIRT2171117	hsa-miR-20a	CLIP-seq
MIRT2171118	hsa-miR-20b	CLIP-seq
MIRT2171119	hsa-miR-27a	CLIP-seq
MIRT2171120	hsa-miR-27b	CLIP-seq
MIRT2171121	hsa-miR-301a	CLIP-seq
MIRT2171122	hsa-miR-301b	CLIP-seq
MIRT2171123	hsa-miR-3609	CLIP-seq
MIRT2171124	hsa-miR-3666	CLIP-seq
MIRT2171125	hsa-miR-3669	CLIP-seq
MIRT2171126	hsa-miR-4269	CLIP-seq
MIRT2171127	hsa-miR-4295	CLIP-seq
MIRT2171128	hsa-miR-4468	CLIP-seq
MIRT2171129	hsa-miR-4519	CLIP-seq
MIRT2171130	hsa-miR-454	CLIP-seq
MIRT2171131	hsa-miR-4662a-5p	CLIP-seq
MIRT2171132	hsa-miR-4764-3p	CLIP-seq
MIRT2171133	hsa-miR-4771	CLIP-seq
MIRT2171134	hsa-miR-4796-3p	CLIP-seq
MIRT2171135	hsa-miR-499a-5p	CLIP-seq
MIRT2171136	hsa-miR-513a-5p	CLIP-seq
MIRT2171137	hsa-miR-519d	CLIP-seq
MIRT2171138	hsa-miR-548ah	CLIP-seq
MIRT2171139	hsa-miR-618	CLIP-seq
MIRT2171140	hsa-miR-922	CLIP-seq
MIRT2171141	hsa-miR-93	CLIP-seq
MIRT2171109	hsa-miR-106a	CLIP-seq
MIRT2171110	hsa-miR-106b	CLIP-seq
MIRT2473766	hsa-miR-1226	CLIP-seq
MIRT2473767	hsa-miR-1245b-5p	CLIP-seq
MIRT2473768	hsa-miR-1295	CLIP-seq
MIRT2171111	hsa-miR-130a	CLIP-seq
MIRT2171112	hsa-miR-130b	CLIP-seq
MIRT2473769	hsa-miR-145	CLIP-seq
MIRT2171113	hsa-miR-148a	CLIP-seq
MIRT2171114	hsa-miR-148b	CLIP-seq
MIRT2171115	hsa-miR-152	CLIP-seq
MIRT2171116	hsa-miR-17	CLIP-seq
MIRT2171117	hsa-miR-20a	CLIP-seq
MIRT2171118	hsa-miR-20b	CLIP-seq
MIRT2473770	hsa-miR-2110	CLIP-seq
MIRT2171119	hsa-miR-27a	CLIP-seq
MIRT2171120	hsa-miR-27b	CLIP-seq
MIRT2171121	hsa-miR-301a	CLIP-seq
MIRT2171122	hsa-miR-301b	CLIP-seq
MIRT2473771	hsa-miR-3125	CLIP-seq
MIRT2473772	hsa-miR-3142	CLIP-seq
MIRT2473773	hsa-miR-3151	CLIP-seq
MIRT2171123	hsa-miR-3609	CLIP-seq
MIRT2171124	hsa-miR-3666	CLIP-seq
MIRT2473774	hsa-miR-3673	CLIP-seq
MIRT2473775	hsa-miR-3916	CLIP-seq
MIRT2473776	hsa-miR-412	CLIP-seq
MIRT2473777	hsa-miR-4257	CLIP-seq
MIRT2473778	hsa-miR-4271	CLIP-seq
MIRT2473779	hsa-miR-4282	CLIP-seq
MIRT2171127	hsa-miR-4295	CLIP-seq
MIRT2171128	hsa-miR-4468	CLIP-seq
MIRT2171129	hsa-miR-4519	CLIP-seq
MIRT2171130	hsa-miR-454	CLIP-seq
MIRT2473780	hsa-miR-4659a-3p	CLIP-seq
MIRT2473781	hsa-miR-4659b-3p	CLIP-seq
MIRT2473782	hsa-miR-4668-5p	CLIP-seq
MIRT2473783	hsa-miR-4725-3p	CLIP-seq
MIRT2473784	hsa-miR-4727-3p	CLIP-seq
MIRT2473785	hsa-miR-4733-3p	CLIP-seq
MIRT2171132	hsa-miR-4764-3p	CLIP-seq
MIRT2171134	hsa-miR-4796-3p	CLIP-seq
MIRT2473786	hsa-miR-513a-3p	CLIP-seq
MIRT2171136	hsa-miR-513a-5p	CLIP-seq
MIRT2171137	hsa-miR-519d	CLIP-seq
MIRT2171138	hsa-miR-548ah	CLIP-seq
MIRT2473787	hsa-miR-615-5p	CLIP-seq
MIRT2171139	hsa-miR-618	CLIP-seq
MIRT2171141	hsa-miR-93	CLIP-seq
MIRT2473788	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003876	Function	AMP deaminase activity	IBA
GO:0003876	Function	AMP deaminase activity	IEA
GO:0003876	Function	AMP deaminase activity	ISS
GO:0003876	Function	AMP deaminase activity	TAS
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006188	Process	IMP biosynthetic process	IBA
GO:0006196	Process	AMP catabolic process	TAS
GO:0006753	Process	Nucleoside phosphate metabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019239	Function	Deaminase activity	IEA
GO:0032264	Process	IMP salvage	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0046033	Process	AMP metabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 102772
• HGNC: 470
• e!Ensembl: ENSG00000133805

Protein

• UniProt ID: Q01432
• Protein name: AMP deaminase 3 (EC 3.5.4.6) (AMP deaminase isoform E) (Erythrocyte AMP deaminase)
• Protein function: AMP deaminase plays a critical role in energy metabolism.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00962	A_deaminase	310 → 717	Adenosine/AMP deaminase	Domain

• Sequence:

  MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQ
  KELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLP
  TPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQY
  LGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEH
  QEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKEL
  KSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFD
  GLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARM
  VKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIF
  RSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDK
  SPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAF
  LTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSL
  STDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYY
  KEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN

• Sequence length: 767

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism
Cytoskeleton in muscle cells

Reactome:

Neutrophil degranulation
Purine salvage

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AMPD3-related disorder	Pathogenic	rs3741040	RCV003952365	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocyte AMP deaminase deficiency	Likely pathogenic; Pathogenic	rs2539574847, rs3741040	RCV003990798 RCV000019932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenosine monophosphate deaminase deficiency	Adenosine Monophosphate Deaminase Deficiency	ORPHANET_DG	11139257, 8004104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenosine monophosphate deaminase deficiency	Adenosine Monophosphate Deaminase Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	20713499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31775891		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	35020748	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19253308	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17112382		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17112382		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19253308	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30194287		★☆☆☆☆ Found in Text Mining only
Erythrocyte Amp Deaminase Deficiency	Erythrocyte Amp Deaminase Deficiency	UNIPROT_DG	11139257, 7881427, 8004104, 9598089		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocyte Amp Deaminase Deficiency	Erythrocyte Amp Deaminase Deficiency	CLINVAR_DG	7881427, 8004104		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocyte Amp Deaminase Deficiency	Erythrocyte Amp Deaminase Deficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28454247		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VII	Glycogen Storage Disease	BEFREE	16670071		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32892688	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19253308	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	20713499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31775891		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17112382		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30194287		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASDB_DG	20713499		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASCAT_DG	20713499		★☆☆☆☆ Found in Text Mining only
Muscle AMP deaminase deficiency	Muscle AMP Deaminase Deficiency	ORPHANET_DG	11139257, 8004104		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15077168, 30265975		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31775891		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31775891	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	20713499		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASCAT_DG	20713499		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35241525	Inhibit	★☆☆☆☆ Found in Text Mining only