TMEM11

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			22 clinvar			22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	23	0	1	24

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003876.3	RefSeq	NP_003867.1	2	MANE Select
ENST00000317635.6	Ensembl	ENSP00000319992.6	2	MANE Select
ENST00000873639.1	Ensembl	ENSP00000543698.1	3	Standard
ENST00000873639.2	Ensembl	ENSP00000543698.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitochondrion organization
inner mitochondrial membrane organization

Molecular Function

molecular_function
protein binding

Cellular Component

mitochondrion
integral component of plasma membrane
integral component of mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000317635
Coding exons: 2
Length: 17345
Individuals with no LoFs: 123685
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 123686
p: 0.00000404

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.35	81	123	0.658	0.00000767	1220
Missense (PolyPhen)		13	39.168	0.3319		423
Synonymous	0.244	60	62.5	0.961	0.00000460	412
Loss of Function	2.43	0	6.89	0.00	2.95e-7	79

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in mitochondrial morphogenesis. {ECO:0000269|PubMed:21274005}.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.0735
RVIS EVS: -0.21
RVIS percentile EVS: 38.28

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.651

Gene Damage Prediction

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