RABL6

RAB, member RAS oncogene family like 6, the group of RAB like GTPases|MicroRNA protein coding host genes

Basic information

Region (hg38): 9:136807943-136841187

Previous symbols: [ "C9orf86" ]

Links

ENSG00000196642 ∙ NCBI:55684 ∙ OMIM:610615 ∙ HGNC:24703 ∙ Uniprot:Q3YEC7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RABL6 gene.

• not_specified (167 variants)
• not_provided (15 variants)
• Meniere_disease (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RABL6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024718.5. 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			1	4	4	9
missense			153	17	2	172
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	154	21	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RABL6	protein_coding	protein_coding	ENST00000371663	15	33266

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00183	124566	0	10	124576	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.116	473	466	1.02	0.0000302	4682
Missense in Polyphen		43	71.296	0.60312		734
Synonymous	-0.805	219	204	1.07	0.0000150	1452
Loss of Function	4.72	3	31.6	0.0949	0.00000152	361

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000995	0.0000995
East Asian	0.0000558	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000642	0.0000620
Middle Eastern	0.0000558	0.0000556
South Asian	0.0000351	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A. {ECO:0000269|PubMed:16582619}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.28
• rvis_percentile_EVS: 33.53

Haploinsufficiency Scores

• pHI: 0.106
• hipred: Y
• hipred_score: 0.530
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rabl6

Gene ontology

• Cellular component: nucleus;cytoplasm;centrosome;cytosol
• Molecular function: protein binding;GTP binding