RUSC1

RUN and SH3 domain containing 1

Basic information

Region (hg38): 1:155320894-155331114

Links

ENSG00000160753 ∙ NCBI:23623 ∙ OMIM:617318 ∙ HGNC:17153 ∙ Uniprot:Q9BVN2 ∙ 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 RUSC1 gene.

• not_specified (46 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RUSC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001105203.2. 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				2		2
missense			46			46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RUSC1	protein_coding	protein_coding	ENST00000368352	9	10219

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.941	0.0587	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	413	504	0.819	0.0000274	5710
Missense in Polyphen		181	224.59	0.80591		2673
Synonymous	0.905	194	211	0.921	0.0000111	1973
Loss of Function	4.33	5	31.0	0.161	0.00000143	352

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000122	0.000119
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000713	0.0000703
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000352	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF- dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway. {ECO:0000269|PubMed:19365808}.
• Pathway: Trk receptor signaling mediated by the MAPK pathway (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.424
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.93

Haploinsufficiency Scores

• pHI: 0.165
• hipred: Y
• hipred_score: 0.575
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.787

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rusc1

Gene ontology

• Biological process: protein polyubiquitination;positive regulation of signal transduction
• Cellular component: nucleus;early endosome;Golgi apparatus;cytosol;microtubule;postsynaptic density;microtubule cytoskeleton;cell junction;cytoplasmic vesicle;postsynaptic membrane
• Molecular function: actin binding;SH3/SH2 adaptor activity;protein binding