C8orf34

protein-coding

chromosome 8 open reading frame 34

Gene summary

This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]

MANE transcript

NM_052958.4

Inheritance

—

ClinVar variants

U:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr8:68,330,955-68,819,023

External References & Databases

Ensembl (ENSG00000165084)

Transcript & Mutation Effects

hg38 • Region Span ~488.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to C8orf34 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 2

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052958.4. Only rare variants are included.

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						0
missense			3 clinvar			3
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	5	0	0	5

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052958.4	RefSeq	NP_443190.2	14	MANE Select
ENST00000518698.6	Ensembl	ENSP00000427820.1	14	MANE Select
NM_001195639.2	RefSeq	NP_001182568.1	7	Standard
NM_001349476.1	RefSeq	NP_001336405.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

MET in type 1 papillary renal cell carcinoma

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000518698
Coding exons: 14
Length: 488301
Individuals with no LoFs: 125548
Homozygous LoFs: 0
Heterozygous LoFs: 200
Defined: 125748
p: 0.000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.660	240	271	0.887	0.0000131	3471
Missense (PolyPhen)		94	117.54	0.79975		1585
Synonymous	0.368	97	102	0.954	0.00000503	1048
Loss of Function	1.16	22	28.7	0.767	0.00000137	357

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.0013	0.0012	notable
Ashkenazi Jewish	0.0015	0.0015	notable
East Asian	0.00055	0.00054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0010	0.0010	notable
South Asian	0.00028	0.00026	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.776
RVIS EVS: -0.31
RVIS percentile EVS: 31.93

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