MAB21L4

mab-21 like 4, the group of MAB21 family

Basic information

Region (hg38): 2:240886048-240896889

Previous symbols: [ "C2orf54" ]

Links

ENSG00000172478 ∙ NCBI:79919 ∙ ∙ HGNC:26216 ∙ Uniprot:Q08AI8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAB21L4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAB21L4 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	0

Variants in MAB21L4

This is a list of pathogenic ClinVar variants found in the MAB21L4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-240887078-C-T		not specified	Uncertain significance (Oct 06, 2021)
2-240887104-T-C		not specified	Likely benign (Oct 06, 2021)
2-240888496-C-G		not specified	Uncertain significance (Sep 17, 2021)
2-240888614-G-A		not specified	Uncertain significance (May 14, 2024)
2-240890082-A-G		not specified	Uncertain significance (Jun 21, 2021)
2-240891632-C-T		not specified	Uncertain significance (Aug 30, 2021)
2-240895810-C-G		not specified	Uncertain significance (Jul 26, 2021)
2-240895868-G-A		not specified	Uncertain significance (Sep 16, 2021)
2-240895915-C-T		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAB21L4	protein_coding	protein_coding	ENST00000388934	5	10842

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.54e-8	0.161	124717	0	53	124770	0.000212

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0815	269	265	1.01	0.0000174	2802
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000197	0.000193
Ashkenazi Jewish	0.0000999	0.0000993
East Asian	0.000112	0.000111
Finnish	0.00170	0.00144
European (Non-Finnish)	0.000111	0.000106
Middle Eastern	0.000112	0.000111
South Asian	0.000102	0.0000980
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.66

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.199
• ghis: 0.394

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: 2310007B03Rik