DSCC1

DNA replication and sister chromatid cohesion 1

Basic information

Region (hg38): 8:119833976-119855894

Links

ENSG00000136982

∙ NCBI:79075 ∙ OMIM:613203 ∙ HGNC:24453 ∙ Uniprot:Q9BVC3 ∙ 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 DSCC1 gene.

not_specified (38 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSCC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024094.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			37 clinvar			37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DSCC1	protein_coding	protein_coding	ENST00000313655	9	22035

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00848	0.989	125719	0	28	125747	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	153	200	0.766	0.00000996	2582
Missense in Polyphen		48	52.799	0.90911		673
Synonymous	1.94	53	74.2	0.714	0.00000399	701
Loss of Function	2.65	7	19.7	0.356	9.30e-7	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000117	0.000117
Ashkenazi Jewish	0.00	0.00
East Asian	0.000226	0.000217
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000226	0.000217
South Asian	0.000259	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3. {ECO:0000269|PubMed:12766176, ECO:0000269|PubMed:19907496}.;
Pathway: Gastric Cancer Network 2 (Consensus)

Recessive Scores

pRec: 0.128

Intolerance Scores

loftool: 0.808
rvis_EVS: -0.03
rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

pHI: 0.798
hipred: Y
hipred_score: 0.670
ghis: 0.654

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: H
gene_indispensability_pred: E
gene_indispensability_score: 0.851

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dscc1
Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype;

Gene ontology

Biological process: DNA replication;regulation of DNA replication;maintenance of mitotic sister chromatid cohesion;post-translational protein acetylation;positive regulation of DNA-directed DNA polymerase activity
Cellular component: chromosome, centromeric region;chromatin;nucleoplasm;Ctf18 RFC-like complex
Molecular function: DNA clamp loader activity;protein binding;single-stranded DNA-dependent ATPase activity