TMEM244

transmembrane protein 244

Basic information

Region (hg38): 6:129831244-129861547

Previous symbols: [ "C6orf191" ]

Links

ENSG00000203756 ∙ NCBI:253582 ∙ ∙ HGNC:21571 ∙ Uniprot:Q5VVB8 ∙ 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 TMEM244 gene.

• not_specified (17 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM244 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001010876.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15	2		17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	16	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM244	protein_coding	protein_coding	ENST00000438392	5	30304

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0106	0.845	125625	0	52	125677	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.375	72	63.6	1.13	0.00000279	811
Missense in Polyphen		24	19.719	1.2171		275
Synonymous	0.487	19	21.9	0.868	0.00000102	240
Loss of Function	1.18	4	7.49	0.534	3.17e-7	91

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000237	0.000237
Ashkenazi Jewish	0.00	0.00
East Asian	0.00114	0.00114
Finnish	0.00	0.00
European (Non-Finnish)	0.000195	0.000194
Middle Eastern	0.00114	0.00114
South Asian	0.00	0.00
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.77
• rvis_percentile_EVS: 86.95

Haploinsufficiency Scores

• pHI: 0.173
• hipred: N
• hipred_score: 0.161

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Cellular component: integral component of membrane