RBAK

RB associated KRAB zinc finger, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:5045821-5069487

Links

ENSG00000146587 ∙ NCBI:57786 ∙ OMIM:608191 ∙ HGNC:17680 ∙ Uniprot:Q9NYW8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RBAK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBAK gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			31	2		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	3	0

Variants in RBAK

This is a list of pathogenic ClinVar variants found in the RBAK region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-5063702-G-C		not specified	Uncertain significance (Jan 03, 2022)
7-5063746-A-G		not specified	Uncertain significance (Oct 12, 2021)
7-5063782-C-A		not specified	Uncertain significance (Oct 12, 2021)
7-5063799-G-A		not specified	Uncertain significance (Mar 19, 2024)
7-5063893-C-G		not specified	Uncertain significance (Apr 15, 2024)
7-5064006-G-T		not specified	Uncertain significance (Aug 16, 2021)
7-5064054-A-G		not specified	Uncertain significance (Dec 22, 2023)
7-5064087-A-T		not specified	Uncertain significance (Oct 03, 2022)
7-5064172-G-A		not specified	Uncertain significance (Jul 20, 2022)
7-5064183-A-T		not specified	Uncertain significance (Oct 10, 2023)
7-5064217-C-T		not specified	Uncertain significance (Dec 21, 2022)
7-5064228-A-G		not specified	Uncertain significance (Jun 24, 2022)
7-5064325-A-C		not specified	Likely benign (Jun 27, 2022)
7-5064378-C-T		not specified	Uncertain significance (Oct 05, 2021)
7-5064379-G-A		not specified	Uncertain significance (Nov 08, 2022)
7-5064579-T-C		not specified	Uncertain significance (Dec 21, 2022)
7-5064806-T-A		not specified	Uncertain significance (Jun 29, 2023)
7-5064825-T-C		not specified	Uncertain significance (Oct 12, 2022)
7-5064832-G-C		not specified	Uncertain significance (Feb 05, 2024)
7-5064883-G-A		not specified	Uncertain significance (Feb 14, 2023)
7-5064921-G-C		not specified	Uncertain significance (Jun 12, 2023)
7-5064937-C-T		not specified	Uncertain significance (Dec 20, 2022)
7-5064958-A-G		not specified	Uncertain significance (Jan 24, 2024)
7-5065006-G-C		not specified	Uncertain significance (May 09, 2024)
7-5065027-C-T		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBAK	protein_coding	protein_coding	ENST00000396912	4	23668

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-8	0.934	125701	0	44	125745	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0883	369	374	0.987	0.0000179	4752
Missense in Polyphen		159	196.77	0.80805		2426
Synonymous	-2.36	170	135	1.26	0.00000707	1202
Loss of Function	1.90	17	27.8	0.612	0.00000131	430

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000566	0.000565
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000109	0.000109
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May repress E2F-dependent transcription. May promote AR- dependent transcription. {ECO:0000269|PubMed:10702291, ECO:0000269|PubMed:14664718}.
• Pathway: AndrogenReceptor (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.648
• rvis_EVS: 0
• rvis_percentile_EVS: 54.03

Haploinsufficiency Scores

• pHI: 0.540
• hipred: N
• hipred_score: 0.376
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.253

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbak

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;nucleic acid binding;zinc ion binding