TMEM30CP

transmembrane protein 30C, pseudogene

Basic information

Region (hg38): 3:100185687-100211766

Previous symbols: [ "TMEM30C" ]

Links

ENSG00000235156

∙ NCBI:644444 ∙ OMIM:611030 ∙ HGNC:30443 ∙ Uniprot:A0ZSE6 ∙ 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 TMEM30CP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM30CP 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM30CP	protein_coding	protein_coding	ENST00000429523	2	8505

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.565	0.391	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.316	49	55.6	0.881	0.00000281	732
Missense in Polyphen		11	17.603	0.62491		230
Synonymous	-0.156	22	21.1	1.04	0.00000106	219
Loss of Function	1.48	0	2.54	0.00	1.06e-7	37

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	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.415

Mouse Genome Informatics

Gene name: Tmem30c
Phenotype

Gene ontology

Biological process: aminophospholipid transport;phospholipid translocation
Cellular component: endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of membrane
Molecular function: phospholipid-translocating ATPase activity;aminophospholipid transmembrane transporter activity