RABL6

protein-coding

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

Gene summary

This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Previous symbols:

C9orf86

MANE transcript

NM_024718.5

Inheritance

ClinVar variants

U:180B:38

Top phenotype

Meniere disease

gnomAD constraint

pLI —, LoF o/e 0.09

Max pathogenic AF

—

Genomic locus

chr9:136,807,943-136,841,187

External References & Databases

Ensembl (ENSG00000196642)

Transcript & Mutation Effects

hg38 • Region Span ~33.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RABL6 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 203

not providedTotal: 17

Meniere diseaseTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024718.5. 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			6 clinvar	15 clinvar	2 clinvar	23
missense			171 clinvar	19 clinvar	2 clinvar	192
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	180	34	4	218

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024718.5	RefSeq	NP_078994.3	15	MANE Select
ENST00000311502.12	Ensembl	ENSP00000311134.7	15	MANE Select
NM_001173988.2	RefSeq	NP_001167459.1	15	Standard
NM_001173989.4	RefSeq	NP_001167460.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
GTP binding

Cellular Component

nucleus
cytoplasm
centrosome
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000371663
Coding exons: 15
Length: 33266
Individuals with no LoFs: 124566
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 124576
p: 0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.116	473	466	1.02	0.0000302	4682
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000064	0.000062	rare
South Asian	0.000035	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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