CYSRT1

cysteine rich tail 1

Basic information

Region (hg38): 9:137225174-137226315

Previous symbols: [ "C9orf169" ]

Links

ENSG00000197191 ∙ NCBI:375791 ∙ ∙ HGNC:30529 ∙ Uniprot:A8MQ03 ∙ 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 CYSRT1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYSRT1 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in CYSRT1

This is a list of pathogenic ClinVar variants found in the CYSRT1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-137225627-C-A		not specified	Uncertain significance (Mar 08, 2024)
9-137225631-C-G		not specified	Uncertain significance (Mar 07, 2024)
9-137225634-G-A		not specified	Uncertain significance (Dec 21, 2022)
9-137225671-T-C		not specified	Uncertain significance (Feb 28, 2025)
9-137225682-C-T		not specified	Uncertain significance (Feb 05, 2024)
9-137225700-G-A		not specified	Uncertain significance (Jul 11, 2023)
9-137225707-A-T		not specified	Uncertain significance (May 23, 2023)
9-137225744-G-T		not specified	Uncertain significance (Apr 30, 2024)
9-137225761-T-C		not specified	Uncertain significance (Mar 31, 2024)
9-137225805-G-A		not specified	Uncertain significance (Jun 11, 2021)
9-137225850-C-G		not specified	Uncertain significance (Aug 17, 2022)
9-137225890-C-G		not specified	Uncertain significance (Jun 07, 2023)
9-137225919-C-A		not specified	Uncertain significance (Feb 08, 2025)
9-137225938-C-T		not specified	Uncertain significance (Jun 11, 2021)
9-137225950-G-A		not specified	Uncertain significance (Aug 04, 2023)
9-137225952-G-A		not specified	Uncertain significance (Aug 12, 2022)
9-137225973-T-C		not specified	Uncertain significance (Aug 09, 2021)
9-137225986-C-A		not specified	Uncertain significance (Jan 30, 2024)
9-137226009-C-T		not specified	Uncertain significance (Jan 25, 2025)
9-137226021-C-T		not specified	Uncertain significance (Oct 12, 2022)
9-137226022-G-A		not specified	Uncertain significance (Jun 09, 2022)
9-137226034-G-A		not specified	Uncertain significance (Aug 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYSRT1	protein_coding	protein_coding	ENST00000359069	1	1677

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00863	0.590	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.541	75	89.4	0.839	0.00000549	924
Missense in Polyphen		11	13.849	0.79427		128
Synonymous	0.980	33	41.0	0.805	0.00000268	288
Loss of Function	0.240	3	3.48	0.861	1.51e-7	36

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Pathway: EGFR1 (Consensus)

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.32

Haploinsufficiency Scores

• ghis: 0.451

Mouse Genome Informatics

• Gene name: Cysrt1

Gene ontology

• Cellular component: extracellular exosome