Hs02887046_cn

• Gene Symbol: MALL
• Assay Reference Genome Location: Chr.2:110115743 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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MALL	NM_005434.4	1	824	NP_005425.1
	XM_011511809.1			XP_011510111.1
	AK056616.1	1	334
	AK125647.1	1	824
	AK311353.1	1	280
	BC003179.1	1	120	AAH03179.1
	U17077.1	1	35	AAA76738.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1163e212	Chr.2:109740565 - 110608419 on Build GRCh38	Loss	NPHP1 LINC01123 MIR4267 LIMS3 RGPD6 MIR4436B1 MIR4436B2 LOC105373985 MALL LIMS3-LOC440895 RANBP2 LOC100507334 LINC00116 LOC440895 LIMS4 RGPD5 LOC100288570 LOC105375809 LINC01106
nsv818076	Chr.2:110072078 - 110224953 on Build GRCh38	Loss	NPHP1 LINC00116 MIR4436B1 MALL
dgv4046n100	Chr.2:110087613 - 110226092 on Build GRCh38	Loss	NPHP1 LINC00116 MALL
dgv7004n54	Chr.2:110114088 - 110228972 on Build GRCh38	Gain	NPHP1 LINC00116 MALL
dgv1162e212	Chr.2:109504090 - 110630891 on Build GRCh38	Gain	NPHP1 LINC01123 SEPT10 MIR4267 LOC105373553 LIMS3 RGPD6 MIR4436B1 MIR4436B2 LOC105373985 MALL LIMS3-LOC440895 RANBP2 LOC100507334 SH3RF3 LINC00116 LOC440895 LIMS4 SOWAHC RGPD5 LOC100288570 LOC105375809 LINC01106
dgv4038n100	Chr.2:109946455 - 110226092 on Build GRCh38	Loss	NPHP1 LINC01123 MIR4267 LINC00116 LOC440895 MIR4436B1 LOC105373985 MALL LIMS3-LOC440895
dgv4041n100	Chr.2:110067648 - 110226092 on Build GRCh38	Gain	NPHP1 MIR4267 LINC00116 MIR4436B1 MALL
esv33999	Chr.2:110097275 - 110215824 on Build GRCh38	Loss	NPHP1 LINC00116 MALL
dgv7002n54	Chr.2:110086470 - 110225743 on Build GRCh38	Loss	NPHP1 LINC00116 MIR4436B1 MALL
nsv834329	Chr.2:109976032 - 110134607 on Build GRCh38	Gain	NPHP1 LINC01123 MIR4267 MIR4436B1 LOC105373985 MALL
esv3584010	Chr.2:109746742 - 110225841 on Build GRCh38	Loss	NPHP1 LINC01123 RANBP2 MIR4267 LINC00116 LOC440895 LIMS3 RGPD5 MIR4436B1 LOC105373985 MALL LIMS3-LOC440895
dgv7000n54	Chr.2:110059554 - 110227938 on Build GRCh38	Loss	NPHP1 MIR4267 LINC00116 MIR4436B1 MALL
dgv6999n54	Chr.2:110038675 - 110225473 on Build GRCh38	Gain	NPHP1 MIR4267 LINC00116 MIR4436B1 MALL
esv2751812	Chr.2:109699637 - 110222769 on Build GRCh38	Loss	NPHP1 LINC01123 RANBP2 MIR4267 LINC00116 LOC440895 LIMS3 RGPD5 MIR4436B1 LOC105373985 MALL LIMS3-LOC440895
dgv155e55	Chr.2:110076984 - 110223048 on Build GRCh38	Gain	NPHP1 LINC00116 MIR4436B1 MALL
esv3591955	Chr.2:110106453 - 110129423 on Build GRCh38	Loss	NPHP1 MALL
nsv2875	Chr.2:110110097 - 110154879 on Build GRCh38	Deletion	NPHP1 MALL
dgv4037n100	Chr.2:109591601 - 110226092 on Build GRCh38	Gain	NPHP1 LINC01123 SEPT10 MIR4267 LIMS3 MIR4436B1 LOC105373985 MALL LIMS3-LOC440895 RANBP2 LINC00116 LOC440895 SOWAHC RGPD5
esv3893070	Chr.2:110067532 - 110225473 on Build GRCh38	Gain+Loss	NPHP1 MIR4267 LINC00116 MIR4436B1 MALL
nsv582654	Chr.2:109937987 - 110225743 on Build GRCh38	Loss	NPHP1 LINC01123 MIR4267 LINC00116 LOC440895 MIR4436B1 LOC105373985 MALL LIMS3-LOC440895
dgv728e214	Chr.2:110095276 - 110225397 on Build GRCh38	Gain	NPHP1 LINC00116 MALL
nsv582666	Chr.2:110095298 - 110149329 on Build GRCh38	Loss	NPHP1 MALL
dgv7003n54	Chr.2:110099666 - 110177146 on Build GRCh38	Loss	NPHP1 MALL
nsv1003103	Chr.2:109746757 - 110327308 on Build GRCh38	Gain+Loss	NPHP1 LINC01123 MIR4267 LIMS3 MIR4436B1 MIR4436B2 LOC105373985 MALL LIMS3-LOC440895 RANBP2 LOC100507334 LINC00116 LOC440895 RGPD5
dgv4044n100	Chr.2:110079504 - 110226092 on Build GRCh38	Gain+Loss	NPHP1 LINC00116 MIR4436B1 MALL

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

cholesterol homeostasis

Function(s)

protein binding