NCMAP

non-compact myelin associated protein

Basic information

Region (hg38): 1:24556087-24609328

Previous symbols: [ "C1orf130" ]

Links

ENSG00000184454 ∙ NCBI:400746 ∙ ∙ HGNC:29332 ∙ Uniprot:Q5T1S8 ∙ 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 NCMAP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NCMAP 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			7	2		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	7	2	0

Variants in NCMAP

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

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

Position	Type	Phenotype	Significance	ClinVar
1-24595441-C-T		not specified	Uncertain significance (Mar 07, 2024)
1-24595462-C-A		not specified	Uncertain significance (Dec 30, 2023)
1-24595491-G-A		not specified	Uncertain significance (Oct 25, 2024)
1-24595495-A-G		not specified	Uncertain significance (Dec 14, 2024)
1-24600961-C-T		not specified	Uncertain significance (Sep 04, 2024)
1-24600985-T-C		not specified	Uncertain significance (Aug 05, 2024)
1-24600994-T-A		not specified	Uncertain significance (Dec 23, 2024)
1-24605625-G-C		not specified	Uncertain significance (Dec 31, 2024)
1-24605647-A-G		not specified	Uncertain significance (Oct 05, 2022)
1-24605667-G-A		not specified	Uncertain significance (Oct 04, 2024)
1-24605680-G-A		not specified	Likely benign (Feb 21, 2024)
1-24605685-G-A		not specified	Likely benign (Jun 09, 2022)
1-24605697-C-A		not specified	Uncertain significance (Jan 22, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NCMAP	protein_coding	protein_coding	ENST00000374392	3	53218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0405	0.668	125739	0	6	125745	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.185	60	64.2	0.935	0.00000373	654
Missense in Polyphen		15	16.26	0.92253		180
Synonymous	-0.515	30	26.6	1.13	0.00000168	226
Loss of Function	0.480	2	2.88	0.695	1.20e-7	40

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in myelin formation. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.37
• rvis_percentile_EVS: 74.95

Haploinsufficiency Scores

• pHI: 0.220
• hipred: N
• hipred_score: 0.303
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ncmap

Gene ontology

• Biological process: positive regulation of myelination;peripheral nervous system myelin formation
• Cellular component: integral component of plasma membrane;paranode region of axon;Schmidt-Lanterman incisure
• Molecular function: structural constituent of myelin sheath