Hs04217188_cn

• Gene Symbol: MALL
• Assay Reference Genome Location: Chr.2:110097418 on build GRCh38
• Cytoband: 2q13

Target Gene Details

• Entrez Gene ID: 7851
• Gene Name: mal, T-cell differentiation protein like
• Gene Aliases: BENE
• Location: Chr.2:110083870-110118139 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MALL	NM_005434.4			NP_005425.1
	XM_011511809.1			XP_011510111.1
	AK056616.1
	AK125647.1
	AK311353.1
	BC003179.1			AAH03179.1
	U17077.1			AAA76738.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv961860	Chr.2:110096240 - 110101376 on Build GRCh38	Duplication	MALL
nsv470479	Chr.2:110072078 - 110224953 on Build GRCh38	Gain	NPHP1 MIR4436B1 LINC00116 MALL
dgv1163e212	Chr.2:109740565 - 110608419 on Build GRCh38	Loss	MIR4436B2 LOC440895 RANBP2 LIMS3-LOC440895 RGPD6 MIR4436B1 LOC100507334 LIMS3 LINC01123 RGPD5 LIMS4 LOC100288570 LOC105375809 NPHP1 MIR4267 LINC01106 LINC00116 MALL LOC105373985
dgv4046n100	Chr.2:110087613 - 110226092 on Build GRCh38	Loss	NPHP1 LINC00116 MALL
dgv6999n54	Chr.2:110038675 - 110225473 on Build GRCh38	Gain	NPHP1 MIR4267 MIR4436B1 LINC00116 MALL
esv2751812	Chr.2:109699637 - 110222769 on Build GRCh38	Loss	LOC440895 RANBP2 LIMS3-LOC440895 NPHP1 MIR4267 MIR4436B1 LINC00116 LIMS3 MALL LINC01123 RGPD5 LOC105373985
dgv154e55	Chr.2:110076984 - 110223048 on Build GRCh38	Loss	NPHP1 MIR4436B1 LINC00116 MALL
dgv1162e212	Chr.2:109504090 - 110630891 on Build GRCh38	Gain	MIR4436B2 LOC440895 LOC105373553 RANBP2 LIMS3-LOC440895 SOWAHC RGPD6 SH3RF3 MIR4436B1 LOC100507334 LIMS3 LINC01123 RGPD5 LIMS4 LOC100288570 LOC105375809 NPHP1 MIR4267 LINC01106 LINC00116 MALL LOC105373985 SEPT10
dgv4041n100	Chr.2:110067648 - 110226092 on Build GRCh38	Gain	NPHP1 MIR4267 MIR4436B1 LINC00116 MALL
nsv1010477	Chr.2:109946455 - 110226092 on Build GRCh38	Gain+Loss	LOC440895 LIMS3-LOC440895 NPHP1 MIR4267 MIR4436B1 LINC00116 MALL LINC01123 LOC105373985
esv33999	Chr.2:110097275 - 110215824 on Build GRCh38	Loss	NPHP1 LINC00116 MALL
esv3893070	Chr.2:110067532 - 110225473 on Build GRCh38	Gain+Loss	NPHP1 MIR4267 MIR4436B1 LINC00116 MALL
dgv4037n100	Chr.2:109591601 - 110226092 on Build GRCh38	Gain	LOC440895 RANBP2 LIMS3-LOC440895 SOWAHC MIR4436B1 LIMS3 LINC01123 RGPD5 NPHP1 MIR4267 LINC00116 MALL LOC105373985 SEPT10
nsv582666	Chr.2:110095298 - 110149329 on Build GRCh38	Loss	NPHP1 MALL
dgv727e214	Chr.2:110095276 - 110225397 on Build GRCh38	Loss	NPHP1 LINC00116 MALL
dgv7002n54	Chr.2:110086470 - 110225743 on Build GRCh38	Loss	NPHP1 MIR4436B1 LINC00116 MALL
nsv582654	Chr.2:109937987 - 110225743 on Build GRCh38	Loss	LOC440895 LIMS3-LOC440895 NPHP1 MIR4267 MIR4436B1 LINC00116 MALL LINC01123 LOC105373985
nsv834329	Chr.2:109976032 - 110134607 on Build GRCh38	Gain	NPHP1 MIR4267 MIR4436B1 MALL LINC01123 LOC105373985
nsv1003103	Chr.2:109746757 - 110327308 on Build GRCh38	Gain+Loss	MIR4436B2 LOC440895 RANBP2 LIMS3-LOC440895 MIR4436B1 LOC100507334 LIMS3 LINC01123 RGPD5 NPHP1 MIR4267 LINC00116 MALL LOC105373985
esv3584010	Chr.2:109746742 - 110225841 on Build GRCh38	Loss	LOC440895 RANBP2 LIMS3-LOC440895 NPHP1 MIR4267 MIR4436B1 LINC00116 LIMS3 MALL LINC01123 RGPD5 LOC105373985
dgv4044n100	Chr.2:110079504 - 110226092 on Build GRCh38	Gain+Loss	NPHP1 MIR4436B1 LINC00116 MALL
dgv7000n54	Chr.2:110059554 - 110227938 on Build GRCh38	Loss	NPHP1 MIR4267 MIR4436B1 LINC00116 MALL

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

cholesterol homeostasis

Function(s)

protein binding