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.

• not_specified (156 variants)
• not_provided (3 variants)
• Prostate_cancer (1 variants)

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. These statistics are base on transcript: NM_001098794.2. 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				2		2
missense			153	2		155
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	153	4	0

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