CXorf38

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			8 clinvar			8
missense			28 clinvar	1 clinvar		29
nonsense			6 clinvar			6
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			15 clinvar			15
Total	0	0	57	1	0	58

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144970.3	RefSeq	NP_659407.1	6	MANE Select
ENST00000327877.10	Ensembl	ENSP00000330488.5	6	MANE Select
NM_001330455.2	RefSeq	NP_001317384.1	4	Standard
ENST00000378421.1	Ensembl	ENSP00000367677.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327877
Coding exons: 6
Length: 18535
Individuals with no LoFs: 125710
Homozygous LoFs: 17
Heterozygous LoFs: 19
Defined: 125746
p: 0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.504	96	111	0.865	0.00000769	2076
Missense (PolyPhen)		32	38.871	0.82323		792
Synonymous	0.170	42	43.4	0.967	0.00000315	601
Loss of Function	1.37	8	13.4	0.596	0.00000116	199

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00015	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00075	0.00055	rare
European (Non-Finnish)	0.00015	0.00011	rare
South Asian	0.00037	0.00023	rare
Other	0.00023	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.673
RVIS EVS: 0.44
RVIS percentile EVS: 77.57

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