RBAK-RBAKDN

protein-coding

RBAK-RBAKDN readthrough

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:4B:1

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr7:4,983,718-5,073,221

External References & Databases

Ensembl (ENSG00000272968)

NCBI Gene (100533952)

HGNC:42971

GenCC

ClinVar (RBAK-RBAKDN)

Transcript & Mutation Effects

hg38 • Region Span ~89.5 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 RBAK-RBAKDN variants in ClinVar

3 Conditions Cataloged

Inborn genetic diseasesTotal: 25

Malignant tumor of prostateTotal: 1

not providedTotal: 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						0
missense			4 clinvar	1 clinvar		5
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	1	0	5

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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_001204513.3	RefSeq	NP_001191442.1	4	Standard
ENST00000396904.2	Ensembl	ENSP00000380112.2	4	Standard
ENST00000407184.5	Ensembl	ENSP00000385560.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription, DNA-templated

Molecular Function

nucleic acid binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000396904
Coding exons: 4
Length: 89504
Individuals with no LoFs: 125739
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125741
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.362	49	56.7	0.865	0.00000282	713
Missense (PolyPhen)		13	19.697	0.65999		277
Synonymous	-1.11	29	22.3	1.30	0.00000128	208
Loss of Function	1.88	1	5.95	0.168	2.53e-7	70

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
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

Essentials

Essential (CRISPR): N

Gene Damage Prediction

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