FSD1L

fibronectin type III and SPRY domain containing 1 like, the group of Fibronectin type III domain containing

Basic information

Region (hg38): 9:105447796-105552433

Previous symbols: [ "CSDUFD1", "CCDC10", "FSD1NL", "FSD1CL" ]

Links

ENSG00000106701 ∙ NCBI:83856 ∙ OMIM:609829 ∙ HGNC:13753 ∙ Uniprot:Q9BXM9 ∙ 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 FSD1L gene.

• not_specified (47 variants)
• Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSD1L gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145313.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			45	2		47
nonsense	1					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	45	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSD1L	protein_coding	protein_coding	ENST00000481272	14	104638

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.234	0.766	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	156	219	0.711	0.0000102	3501
Missense in Polyphen		53	81.097	0.65354		1243
Synonymous	1.61	57	74.8	0.762	0.00000343	945
Loss of Function	3.50	6	24.8	0.242	0.00000130	387

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

Recessive Scores

• pRec: 0.107

Intolerance Scores

• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.42

Haploinsufficiency Scores

• pHI: 0.192
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.271

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fsd1l

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function