FHIP1B

FHF complex subunit HOOK interacting protein 1B, the group of FHF complex

Basic information

Region (hg38): 11:6211345-6234711

Previous symbols: [ "C11orf56", "FAM160A2" ]

Links

ENSG00000051009 ∙ NCBI:84067 ∙ OMIM:620229 ∙ HGNC:25378 ∙ Uniprot:Q8N612 ∙ 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 FHIP1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FHIP1B 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				2		2
missense			95	1		96
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	95	3	0

Variants in FHIP1B

This is a list of pathogenic ClinVar variants found in the FHIP1B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-6211592-G-A		not specified	Uncertain significance (Aug 10, 2024)
11-6211648-T-C		not specified	Uncertain significance (Jul 27, 2024)
11-6211679-C-T		not specified	Uncertain significance (Dec 12, 2024)
11-6211685-G-A		not specified	Uncertain significance (Mar 07, 2023)
11-6211702-C-T		not specified	Uncertain significance (Nov 13, 2024)
11-6211768-C-G		not specified	Uncertain significance (Sep 27, 2024)
11-6211768-C-T		not specified	Uncertain significance (Jul 14, 2021)
11-6211802-G-A		not specified	Uncertain significance (Jun 17, 2024)
11-6211822-G-A		not specified	Uncertain significance (Mar 01, 2023)
11-6211839-C-A		not specified	Uncertain significance (Oct 17, 2023)
11-6211840-T-G		not specified	Uncertain significance (Dec 30, 2024)
11-6211858-C-T		not specified	Uncertain significance (Oct 06, 2022)
11-6211859-G-A		not specified	Uncertain significance (Jan 26, 2023)
11-6214426-G-A		Prostate cancer	Conflicting classifications of pathogenicity (Jan 01, 2023)
11-6214454-C-G		not specified	Uncertain significance (Nov 14, 2024)
11-6214464-T-C		not specified	Uncertain significance (Feb 05, 2024)
11-6214554-T-C		not specified	Uncertain significance (Jul 09, 2021)
11-6214774-T-C		not specified	Uncertain significance (Oct 25, 2022)
11-6214784-G-T		not specified	Uncertain significance (Feb 09, 2025)
11-6214829-C-G			Likely benign (Jan 01, 2023)
11-6214888-C-T		not specified	Uncertain significance (Sep 30, 2024)
11-6217403-G-A		not specified	Uncertain significance (Nov 13, 2024)
11-6217406-C-T		not specified	Uncertain significance (Oct 20, 2024)
11-6217461-C-T		not specified	Uncertain significance (Mar 02, 2023)
11-6217482-G-T		not specified	Uncertain significance (Apr 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FHIP1B	protein_coding	protein_coding	ENST00000265978	11	23377

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.990	0.00977	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.16	524	604	0.867	0.0000382	6220
Missense in Polyphen		147	231.69	0.63446		2471
Synonymous	-2.60	292	241	1.21	0.0000132	2247
Loss of Function	5.01	6	40.4	0.149	0.00000263	388

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000240	0.000239
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000620	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). {ECO:0000269|PubMed:18799622}.

Recessive Scores

• pRec: 0.0975

Intolerance Scores

• loftool: 0.430
• rvis_EVS: -0.94
• rvis_percentile_EVS: 9.39

Haploinsufficiency Scores

• pHI: 0.532
• hipred: Y
• hipred_score: 0.662
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.428

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam160a2

Gene ontology

• Biological process: endosome organization;lysosome organization;endosome to lysosome transport;protein transport;early endosome to late endosome transport
• Cellular component: cytosol;FHF complex
• Molecular function: protein binding