C1orf116

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			8 clinvar	1 clinvar		9
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	10	2	0	12

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_023938.6	RefSeq	NP_076427.2	3	MANE Select
ENST00000359470.6	Ensembl	ENSP00000352447.5	3	MANE Select
NM_001083924.2	RefSeq	NP_001077393.1	1	Standard
ENST00000461135.2	Ensembl	ENSP00000436862.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000359470
Coding exons: 3
Length: 14236
Individuals with no LoFs: 125687
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 125748
p: 0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.386	361	341	1.06	0.0000187	3817
Missense (PolyPhen)		101	101.22	0.99787		1190
Synonymous	1.15	121	138	0.875	0.00000740	1318
Loss of Function	2.46	8	19.8	0.404	0.00000120	208

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00049	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00029	0.00028	rare
South Asian	0.00035	0.00033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative androgen-specific receptor. {ECO:0000269|PubMed:15525603}.;

Recessive Scores

pRec: 0.0931

Intolerance Scores

LoFtool: 0.833
RVIS EVS: 2.8
RVIS percentile EVS: 99.05

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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