RCBTB2

RCC1 and BTB domain containing protein 2, the group of BTB domain containing

Basic information

Region (hg38): 13:48488963-48533256

Previous symbols: [ "CHC1L" ]

Links

ENSG00000136161 ∙ NCBI:1102 ∙ OMIM:603524 ∙ HGNC:1914 ∙ Uniprot:O95199 ∙ 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 RCBTB2 gene.

• not_specified (62 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RCBTB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001268.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			62			62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RCBTB2	protein_coding	protein_coding	ENST00000344532	12	44275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.49e-9	0.894	125686	0	62	125748	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0584	313	310	1.01	0.0000169	3587
Missense in Polyphen		96	100.93	0.95118		1209
Synonymous	0.831	110	122	0.904	0.00000738	1072
Loss of Function	1.79	18	28.2	0.637	0.00000133	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000593	0.000592
Ashkenazi Jewish	0.00	0.00
East Asian	0.000490	0.000489
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000490	0.000489
South Asian	0.000375	0.000359
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0890

Intolerance Scores

• loftool: 0.410
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.8

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.352
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.279

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rcbtb2

Gene ontology

• Cellular component: acrosomal vesicle
• Molecular function: Ran guanyl-nucleotide exchange factor activity;protein binding