FHL5

four and a half LIM domains 5, the group of LIM domain containing

Basic information

Region (hg38): 6:96562547-96618626

Links

ENSG00000112214 ∙ NCBI:9457 ∙ OMIM:605126 ∙ HGNC:17371 ∙ Uniprot:Q5TD97 ∙ 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 FHL5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FHL5 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in FHL5

This is a list of pathogenic ClinVar variants found in the FHL5 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-96603624-C-T		not specified	Uncertain significance (Dec 18, 2023)
6-96603711-A-T		not specified	Uncertain significance (Feb 28, 2023)
6-96604769-G-T		not specified	Uncertain significance (Sep 21, 2023)
6-96604850-G-A		not specified	Uncertain significance (Mar 24, 2023)
6-96604913-C-A		not specified	Uncertain significance (Jun 30, 2023)
6-96604920-G-T		not specified	Uncertain significance (Jan 30, 2024)
6-96605907-C-T		not specified	Uncertain significance (Feb 15, 2023)
6-96605971-A-C		not specified	Uncertain significance (May 02, 2024)
6-96605978-A-G		not specified	Uncertain significance (Jul 20, 2022)
6-96610575-A-G		not specified	Uncertain significance (Mar 16, 2024)
6-96610657-G-C		not specified	Uncertain significance (Mar 03, 2022)
6-96610672-T-C		not specified	Uncertain significance (Aug 02, 2022)
6-96610683-G-A		not specified	Uncertain significance (Dec 19, 2022)
6-96615649-G-C		not specified	Uncertain significance (May 08, 2024)
6-96615690-C-A		not specified	Uncertain significance (Apr 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FHL5	protein_coding	protein_coding	ENST00000326771	5	54089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.85e-10	0.0605	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.313	161	150	1.07	0.00000735	1902
Missense in Polyphen		55	57.127	0.96277		738
Synonymous	0.431	49	53.0	0.925	0.00000281	456
Loss of Function	-0.143	14	13.4	1.04	6.51e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.00	0.00
East Asian	0.000275	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000275	0.000272
South Asian	0.000336	0.000327
Other	0.000337	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the regulation of spermatogenesis. Stimulates CREM transcriptional activity in a phosphorylation- independent manner. {ECO:0000269|PubMed:11327716}.
• Pathway: regulation of spermatogenesis by crem (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.196
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.48

Haploinsufficiency Scores

• pHI: 0.502
• hipred: N
• hipred_score: 0.394
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.660

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Fhl5
• Phenotype: endocrine/exocrine gland phenotype; cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;Z disc
• Molecular function: transcription coactivator activity;protein binding;metal ion binding