CMTM8

CKLF like MARVEL transmembrane domain containing 8, the group of CKLF like MARVEL transmembrane domain containing

Basic information

Region (hg38): 3:32238678-32370321

Previous symbols: [ "CKLFSF8" ]

Links

ENSG00000170293 ∙ NCBI:152189 ∙ OMIM:607891 ∙ HGNC:19179 ∙ Uniprot:Q8IZV2 ∙ 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 CMTM8 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CMTM8 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			9			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	9	0	0

Variants in CMTM8

This is a list of pathogenic ClinVar variants found in the CMTM8 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-32238998-C-T		not specified	Uncertain significance (Dec 19, 2023)
3-32239055-G-A		not specified	Uncertain significance (May 31, 2023)
3-32357395-C-T		not specified	Uncertain significance (Apr 14, 2022)
3-32357422-G-A		not specified	Uncertain significance (Jan 23, 2024)
3-32357457-G-A		not specified	Uncertain significance (Jun 05, 2023)
3-32357512-A-G		not specified	Uncertain significance (Sep 29, 2023)
3-32367905-T-A		not specified	Uncertain significance (May 26, 2022)
3-32367929-G-T		not specified	Uncertain significance (Mar 24, 2023)
3-32367938-G-A		not specified	Uncertain significance (May 31, 2022)
3-32367963-A-G		not specified	Uncertain significance (Jun 22, 2021)
3-32369914-G-T		not specified	Uncertain significance (Mar 07, 2023)
3-32369961-A-G		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CMTM8	protein_coding	protein_coding	ENST00000307526	4	131647

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0596	0.875	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0718	98	100	0.980	0.00000529	1116
Missense in Polyphen		29	32.497	0.89238		392
Synonymous	0.627	37	42.2	0.877	0.00000253	344
Loss of Function	1.55	3	7.60	0.395	3.34e-7	78

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000539	0.0000462
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0924

Intolerance Scores

• loftool: 0.480
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.0989
• hipred: Y
• hipred_score: 0.644
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0555

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cmtm8

Gene ontology

• Biological process: chemotaxis;regulation of signaling receptor activity;myelination
• Cellular component: extracellular space;nucleoplasm;cytoplasm;integral component of membrane
• Molecular function: cytokine activity;structural constituent of myelin sheath