FSIP2

fibrous sheath interacting protein 2

Basic information

Region (hg38): 2:185738804-185833290

Links

ENSG00000188738NCBI:401024OMIM:615796HGNC:21675Uniprot:Q5CZC0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR
  • spermatogenic failure 34 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Spermatogenic failure 34ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingGenitourinary30137358

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FSIP2 gene.

  • Abnormal sperm morphology;Reduced sperm motility;Oligospermia (1 variants)
  • Spermatogenic failure 34 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSIP2 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
23
clinvar
1
clinvar
24
missense
534
clinvar
49
clinvar
583
nonsense
0
start loss
0
frameshift
2
clinvar
3
clinvar
1
clinvar
6
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
6
clinvar
6
Total 2 3 541 73 1

Variants in FSIP2

This is a list of pathogenic ClinVar variants found in the FSIP2 region.

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

Position Type Phenotype Significance ClinVar
2-185738832-A-C not specified Uncertain significance (Mar 01, 2023)2492902
2-185738835-G-A not specified Uncertain significance (Jun 28, 2022)2298167
2-185738851-A-G not specified Uncertain significance (Feb 27, 2023)2489633
2-185738857-G-A not specified Uncertain significance (Sep 01, 2021)2355411
2-185738863-G-T not specified Uncertain significance (Mar 02, 2023)2493457
2-185738884-C-T not specified Uncertain significance (Oct 24, 2023)3097275
2-185738891-G-A FSIP2-related disorder Likely benign (Apr 11, 2019)3039107
2-185738911-G-A not specified Uncertain significance (May 18, 2023)2513240
2-185738980-A-G not specified Uncertain significance (Oct 30, 2023)3097282
2-185738985-T-C not specified Uncertain significance (Feb 14, 2023)2483276
2-185738993-C-T FSIP2-related disorder Likely benign (Apr 26, 2019)3057992
2-185739377-G-A not specified Uncertain significance (Nov 07, 2022)2409002
2-185739417-G-T Likely benign (Dec 01, 2022)1879511
2-185739439-G-A not specified Likely benign (Jun 10, 2024)3280095
2-185743179-G-A Uncertain significance (Mar 01, 2021)1176749
2-185743184-T-C FSIP2-related disorder Likely benign (Apr 11, 2019)3050642
2-185743216-A-T Likely benign (Nov 01, 2024)3389116
2-185744351-G-A FSIP2-related disorder Likely benign (Jan 02, 2020)3042041
2-185745523-A-T not specified Uncertain significance (Jul 05, 2024)3517573
2-185745528-A-C not specified Uncertain significance (Jul 27, 2022)2211885
2-185745537-A-G not specified Uncertain significance (Feb 27, 2024)3097315
2-185745553-G-A not specified Uncertain significance (Jan 23, 2024)3097319
2-185746709-C-T not specified Uncertain significance (May 14, 2024)3280051
2-185746758-G-A Uncertain significance (-)1050090
2-185746761-A-G not specified Uncertain significance (Feb 11, 2022)2208972

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FSIP2protein_codingprotein_codingENST00000343098 2394663
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.63e-281.001233700101233800.0000405
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.3124893.00e+30.8300.00014246142
Missense in Polyphen574746.050.7693912660
Synonymous3.779301.09e+30.8540.000053312966
Loss of Function7.35811900.4250.000009243457

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009740.0000970
Ashkenazi Jewish0.000.00
East Asian0.00006080.0000557
Finnish0.00004720.0000464
European (Non-Finnish)0.00004720.0000452
Middle Eastern0.00006080.0000557
South Asian0.00003400.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0762

Haploinsufficiency Scores

pHI
0.0521
hipred
N
hipred_score
0.406
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.501

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Fsip2
Phenotype