TMEM144

transmembrane protein 144

Basic information

Region (hg38): 4:158201604-158255416

Links

ENSG00000164124 ∙ NCBI:55314 ∙ ∙ HGNC:25633 ∙ Uniprot:Q7Z5S9 ∙ 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 TMEM144 gene.

• not_specified (46 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM144 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018342.5. 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			1			1
missense			49			49
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	52	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM144	protein_coding	protein_coding	ENST00000296529	11	53808

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.38e-11	0.103	125339	1	408	125748	0.00163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0998	184	180	1.02	0.00000810	2253
Missense in Polyphen		42	46.511	0.90302		601
Synonymous	-1.23	72	59.9	1.20	0.00000283	646
Loss of Function	0.388	17	18.8	0.904	7.99e-7	230

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000988	0.000988
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00136	0.00136
Finnish	0.000601	0.000601
European (Non-Finnish)	0.00263	0.00262
Middle Eastern	0.00136	0.00136
South Asian	0.00124	0.00124
Other	0.00163	0.00163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.818
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.13

Haploinsufficiency Scores

• pHI: 0.0860
• hipred: N
• hipred_score: 0.350
• ghis: 0.480

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.241

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem144

Gene ontology

• Biological process: carbohydrate transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: carbohydrate transmembrane transporter activity