TMEM14C

transmembrane protein 14C, the group of Transmembrane protein 14 family

Basic information

Region (hg38): 6:10722914-10731129

Previous symbols: [ "C6orf53" ]

Links

ENSG00000111843 ∙ NCBI:51522 ∙ OMIM:615318 ∙ HGNC:20952 ∙ Uniprot:Q9P0S9 ∙ 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 TMEM14C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM14C 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in TMEM14C

This is a list of pathogenic ClinVar variants found in the TMEM14C region.

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

Position	Type	Phenotype	Significance	ClinVar
6-10724632-G-A		not specified	Uncertain significance (Aug 21, 2023)
6-10725032-A-G		not specified	Uncertain significance (Nov 17, 2023)
6-10725034-G-A		not specified	Uncertain significance (Aug 13, 2021)
6-10725966-T-C		not specified	Uncertain significance (Feb 15, 2023)
6-10725976-C-A		not specified	Uncertain significance (Jan 08, 2024)
6-10725993-G-A		not specified	Likely benign (Aug 28, 2023)
6-10728667-T-C		not specified	Uncertain significance (Nov 15, 2021)
6-10728701-G-T		not specified	Uncertain significance (Oct 06, 2021)
6-10728717-G-T		not specified	Uncertain significance (Jan 08, 2024)
6-10730644-G-T		not specified	Uncertain significance (Dec 17, 2023)
6-10730662-A-G		not specified	Uncertain significance (Jan 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM14C	protein_coding	protein_coding	ENST00000541412	5	8215

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00611	0.752	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.168	60	63.8	0.941	0.00000326	713
Missense in Polyphen		10	16.455	0.60771		217
Synonymous	-0.552	29	25.5	1.14	0.00000163	229
Loss of Function	0.854	4	6.32	0.633	2.69e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for normal heme biosynthesis. {ECO:0000250}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.516
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.112
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.471

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem14c
• Phenotype: hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype

Zebrafish Information Network

• Gene name: tmem14ca
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: heme biosynthetic process;mitochondrial transport;erythrocyte differentiation;regulation of heme biosynthetic process
• Cellular component: mitochondrial inner membrane;integral component of membrane
• Molecular function: protein binding