RABAC1

Rab acceptor 1, the group of YIP family

Basic information

Region (hg38): 19:41956681-41959321

Links

ENSG00000105404 ∙ NCBI:10567 ∙ OMIM:604925 ∙ HGNC:9794 ∙ Uniprot:Q9UI14 ∙ 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 RABAC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RABAC1 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						0
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in RABAC1

This is a list of pathogenic ClinVar variants found in the RABAC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-41956872-C-T		not specified	Uncertain significance (Dec 30, 2023)
19-41956886-T-G		not specified	Uncertain significance (May 18, 2023)
19-41957101-G-A		not specified	Uncertain significance (Dec 22, 2023)
19-41958312-G-A		not specified	Uncertain significance (Jan 24, 2023)
19-41958740-A-T		not specified	Uncertain significance (Dec 21, 2023)
19-41958860-C-A		not specified	Uncertain significance (Apr 06, 2024)
19-41958937-G-C		not specified	Uncertain significance (May 23, 2023)
19-41958940-A-C		not specified	Uncertain significance (Oct 26, 2022)
19-41959249-C-T		not specified	Uncertain significance (Apr 08, 2024)
19-41959277-C-T		not specified	Uncertain significance (Jun 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RABAC1	protein_coding	protein_coding	ENST00000222008	5	2710

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00529	0.901	125371	0	23	125394	0.0000917

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.744	91	113	0.803	0.00000578	1160
Missense in Polyphen		31	41.118	0.75393		415
Synonymous	-0.214	54	52.0	1.04	0.00000298	395
Loss of Function	1.43	5	9.86	0.507	5.15e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000161	0.000159
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI. {ECO:0000250|UniProtKB:O35394}.

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.618
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.175
• hipred: Y
• hipred_score: 0.542
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.806

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rabac1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: Golgi apparatus;plasma membrane;synaptic vesicle;membrane;integral component of membrane;cell junction
• Molecular function: protein binding;protein C-terminus binding;identical protein binding;proline-rich region binding