TMEM91

transmembrane protein 91, the group of interferon induced transmembrane protein domain containing

Basic information

Region (hg38): 19:41350910-41384083

Links

ENSG00000142046 ∙ NCBI:641649 ∙ OMIM:618294 ∙ HGNC:32393 ∙ Uniprot:Q6ZNR0 ∙ 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 TMEM91 gene.

• not provided (91 variants)
• Familial aplasia of the vermis;Meckel-Gruber syndrome (19 variants)
• Meckel-Gruber syndrome;Familial aplasia of the vermis (16 variants)
• Inborn genetic diseases (12 variants)
• not specified (11 variants)
• Meckel syndrome, type 10 (11 variants)
• Joubert syndrome and related disorders (5 variants)
• Familial aplasia of the vermis (4 variants)
• Inflammatory bowel disease, immunodeficiency, and encephalopathy (3 variants)
• Joubert syndrome 34 (3 variants)
• Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Encephalopathy (2 variants)
• Diaphyseal dysplasia (2 variants)
• Cystic fibrosis (1 variants)
• Diaphyseal dysplasia;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Cystic fibrosis (1 variants)
• Breast cancer, invasive, susceptibility to (1 variants)
• Cystic fibrosis;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Diaphyseal dysplasia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM91 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	2	9	66	43	14	134
Total	2	9	70	43	14

Highest pathogenic variant AF is 0.00000657

Variants in TMEM91

This is a list of pathogenic ClinVar variants found in the TMEM91 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-41352671-C-T			Likely benign (Aug 09, 2022)
19-41352674-G-A			Likely benign (Nov 09, 2022)
19-41352683-A-T			Likely benign (Nov 10, 2023)
19-41352685-C-T		Cystic fibrosis;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Diaphyseal dysplasia	Benign (Jan 31, 2024)
19-41352687-C-T			Uncertain significance (Oct 25, 2023)
19-41352691-G-A			Uncertain significance (Feb 08, 2022)
19-41352697-G-A		Inborn genetic diseases	Benign/Likely benign (Feb 01, 2024)
19-41352699-T-C			Uncertain significance (Jun 22, 2022)
19-41352702-C-T			Uncertain significance (Aug 30, 2022)
19-41352707-A-G			Uncertain significance (Nov 29, 2022)
19-41352717-G-A		Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Encephalopathy • Inflammatory bowel disease, immunodeficiency, and encephalopathy	Likely pathogenic (Feb 27, 2019)
19-41352727-C-T			Likely benign (May 30, 2022)
19-41352741-C-A			Uncertain significance (Sep 27, 2022)
19-41352743-G-A			Uncertain significance (Dec 25, 2023)
19-41352745-C-A			Uncertain significance (Nov 21, 2023)
19-41352750-G-A			Uncertain significance (Dec 11, 2023)
19-41352750-G-T			Uncertain significance (Jun 15, 2023)
19-41352753-C-G			Uncertain significance (Apr 12, 2023)
19-41352753-C-T			Uncertain significance (Sep 09, 2023)
19-41352754-G-A		TGFB1-related disorder	Likely benign (Jan 02, 2024)
19-41352761-G-T			Uncertain significance (Oct 19, 2022)
19-41352769-A-ACT			Uncertain significance (May 23, 2023)
19-41352773-T-C			Uncertain significance (May 07, 2022)
19-41352774-C-T			Uncertain significance (Oct 30, 2023)
19-41352787-G-T			Uncertain significance (Dec 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM91	protein_coding	protein_coding	ENST00000392002	3	33173

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0263	0.802	124779	0	15	124794	0.0000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.655	91	110	0.825	0.00000678	1089
Missense in Polyphen		29	37.618	0.7709		404
Synonymous	1.34	37	48.9	0.757	0.00000322	384
Loss of Function	1.03	3	5.64	0.532	2.39e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000324	0.000324
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000568	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000883
Middle Eastern	0.0000568	0.0000556
South Asian	0.0000660	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.265
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.267
• ghis: 0.509

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.337

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem91

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation;biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function