TMEM44

transmembrane protein 44

Basic information

Region (hg38): 3:194587673-194633689

Links

ENSG00000145014 ∙ NCBI:93109 ∙ ∙ HGNC:25120 ∙ Uniprot:Q2T9K0 ∙ 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 TMEM44 gene.

• not_specified (84 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001011655.3. 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				5		5
missense			76	3		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM44	protein_coding	protein_coding	ENST00000392432	11	46017

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.19e-16	0.00831	125659	1	88	125748	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.300	273	259	1.05	0.0000154	2965
Missense in Polyphen		89	75.78	1.1745		752
Synonymous	-0.831	121	110	1.10	0.00000663	995
Loss of Function	-0.0892	23	22.5	1.02	0.00000113	250

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000628	0.000624
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.000253	0.000246
Middle Eastern	0.000164	0.000163
South Asian	0.00122	0.00114
Other	0.000504	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0933

Intolerance Scores

• loftool: 0.981
• rvis_EVS: 1.78
• rvis_percentile_EVS: 96.84

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.492

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.117

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem44

Gene ontology

• Cellular component: integral component of membrane