Hs02728989_cn

• Gene Symbol: MBNL1
• Assay Reference Genome Location: Chr.3:152268972 on build GRCh38
• Cytoband: 3q25.1

Target Gene Details

• Entrez Gene ID: 4154
• Gene Name: muscleblind like splicing regulator 1
• Gene Aliases: EXP, MBNL
• Location: Chr.3:152243656-152465780 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBNL1	NM_001314057.1	1	505	NP_001300986.1
	NM_021038.4	1	505	NP_066368.2
	NM_207292.2	1	505	NP_997175.1
	XM_005247457.4			XP_005247514.1
	XM_005247461.4			XP_005247518.1
	XM_005247462.4			XP_005247519.1
	XM_005247463.4			XP_005247520.1
	XM_005247464.4	1	131	XP_005247521.1
	XM_005247465.4			XP_005247522.1
	XM_005247466.4	1	108	XP_005247523.1
	XM_005247467.4			XP_005247524.1
	XM_005247468.4			XP_005247525.1
	XM_005247471.4	1	103	XP_005247528.1
	XM_005247475.3			XP_005247532.1
	XM_005247476.4	1	44	XP_005247533.1
	XM_006713639.1			XP_006713702.1
	XM_011512843.2			XP_011511145.1
	XM_011512845.2			XP_011511147.1
	XM_011512846.2			XP_011511148.1
	XM_011512847.2	1	36	XP_011511149.1
	XM_011512848.2			XP_011511150.1
	XM_011512849.2			XP_011511151.1
	XM_017006428.1			XP_016861917.1
	XM_017006432.1	1	108	XP_016861921.1
	XM_017006433.1	1	108	XP_016861922.1
	XM_017006435.1			XP_016861924.1
	XM_017006438.1			XP_016861927.1
	XM_017006439.1			XP_016861928.1
	XM_017006441.1	1	44	XP_016861930.1
	AB007888.1	1	505
	BC043493.1			AAH43493.1
	BC050535.1			AAH50535.1
	BM686432.1
	BQ223290.1

Target Gene Details

• Entrez Gene ID: 401093
• Gene Name: MBNL1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.3:152262616-152269626 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBNL1-AS1	NR_027037.1	2	289
	NR_027038.1	2	300
	AK304857.1	2	209
	AK316515.1	2	229
	BM790896.1	2	300

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954493	Chr.3:152196212 - 152409011 on Build GRCh38	Duplication	MBNL1-AS1 TMEM14EP MBNL1 LOC101928166

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

in utero embryonic development
mRNA processing
nervous system development
RNA splicing
embryonic limb morphogenesis
regulation of RNA splicing
myoblast differentiation

Function(s)

regulatory region RNA binding
RNA binding
double-stranded RNA binding
protein binding
poly(A) RNA binding
metal ion binding