CMIP

protein-coding

c-Maf inducing protein, the group of MicroRNA protein coding host genes

Gene summary

This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

MANE transcript

NM_198390.3

Inheritance

—

ClinVar variants

P:1U:98B:28

Top phenotype

CMIP-related disorder

gnomAD constraint

pLI —, LoF o/e 0.05

Max pathogenic AF

—

Genomic locus

chr16:81,444,808-81,711,762

External References & Databases

Ensembl (ENSG00000153815)

Transcript & Mutation Effects

hg38 • Region Span ~267.0 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 CMIP variants in ClinVar

6 Conditions Cataloged

not specifiedTotal: 80

not providedTotal: 36

CMIP-related disorderTotal: 23

Pyloric stenosisTotal: 1

See casesTotal: 1

Esophageal atresiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198390.3. 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			1 clinvar	20 clinvar	7 clinvar	28
missense			82 clinvar	1 clinvar		83
nonsense			3 clinvar			3
start loss						0
frameshift		1 clinvar	2 clinvar			3
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	1	98	21	7	127

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198390.3	RefSeq	NP_938204.2	21	MANE Select
ENST00000537098.8	Ensembl	ENSP00000446100.2	21	MANE Select
NM_030629.3	RefSeq	NP_085132.1	21	Standard
ENST00000398040.8	Ensembl	ENSP00000381120.4	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

nucleoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000537098
Coding exons: 21
Length: 266593
Individuals with no LoFs: 124521
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 124523
p: 0.00000803

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.26	265	462	0.573	0.0000278	4986
Missense (PolyPhen)		49	123.08	0.39812		1369
Synonymous	-2.47	259	213	1.22	0.0000147	1528
Loss of Function	5.68	2	41.5	0.0482	0.00000194	482

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000059	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in T-cell signaling pathway. Isoform 2 may play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor. {ECO:0000269|PubMed:12939343, ECO:0000269|PubMed:15128042}.;

Intolerance Scores

LoFtool: 0.220
RVIS EVS: -1.53
RVIS percentile EVS: 3.37

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): K
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium