CORO7-PAM16

protein-coding

CORO7-PAM16 readthrough

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:2U:22B:18

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr16:4,340,251-4,420,494

External References & Databases

Ensembl (ENSG00000103426)

NCBI Gene (100529144)

HGNC:44424

GenCC

ClinVar (CORO7-PAM16)

Transcript & Mutation Effects

hg38 • Region Span ~80.2 kb

Loading mutation effect viewer...

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 CORO7-PAM16 variants in ClinVar

4 Conditions Cataloged

not providedTotal: 66

Inborn genetic diseasesTotal: 50

Autosomal recessive spondylometaphyseal dysplasia, Megarbane typeTotal: 3

Acute megakaryocytic leukemia;Mediastinal germ cell tumorTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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			1 clinvar	10 clinvar	1 clinvar	12
missense	2 clinvar		21 clinvar		4 clinvar	27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar	2 clinvar	3
Total	2	0	22	11	7	42

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001201479.2	RefSeq	NP_001188408.1	31	Standard
ENST00000572467.5	Ensembl	ENSP00000460885.1	31	Standard
ENST00000575334.5	Ensembl	ENSP00000458607.1	17	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000572467
Coding exons: 31
Length: 80244
Individuals with no LoFs: 125446
Homozygous LoFs: 1
Heterozygous LoFs: 301
Defined: 125748
p: 0.00120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.404	687	658	1.04	0.0000436	6620
Missense (PolyPhen)		245	248.87	0.98447		2467
Synonymous	-1.06	312	289	1.08	0.0000198	2227
Loss of Function	1.96	47	63.9	0.735	0.00000355	632

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0023	0.0022	notable
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0.0023	0.0023	notable
East Asian	0.00077	0.00076	rare
Finnish	0.0012	0.0011	notable
European (Non-Finnish)	0.0016	0.0015	notable
South Asian	0.00058	0.00056	rare
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N

Gene Damage Prediction

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