MAB21L4

Gene

mab-21 like 4, the group of MAB21 family

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C2orf54

MANE transcript

NM_001085437.3

Inheritance

—

ClinVar variants

U:12B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.95

Max pathogenic AF

—

Genomic locus

chr2:240,886,048-240,896,889

External References & Databases

Ensembl (ENSG00000172478)

Transcript & Mutation Effects

hg38 • Region Span ~10.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MAB21L4 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001085437.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			11 clinvar	1 clinvar		12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	12	1	0	13

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001085437.3	RefSeq	NP_001078906.3	5	MANE Select
ENST00000388934.5	Ensembl	ENSP00000373586.4	5	MANE Select
NM_001282921.2	RefSeq	NP_001269850.2	5	Standard
NM_024861.4	RefSeq	NP_079137.4	5	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000388934
Coding exons: 5
Length: 10842
Individuals with no LoFs: 124717
Homozygous LoFs: 0
Heterozygous LoFs: 53
Defined: 124770
p: 0.000212

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0815	269	265	1.01	0.0000174	2802
Missense (PolyPhen)		98	86.196	1.1369		951
Synonymous	0.839	112	124	0.904	0.00000854	952
Loss of Function	0.155	12	12.6	0.953	5.41e-7	143

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.0017	0.0014	notable
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00010	0.000098	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.8
RVIS percentile EVS: 87.66

Essentials

Essential (gene trap): N