IFT70B

intraflagellar transport 70B, the group of IFT-B1 complex|Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 2:177548998-177552796

Previous symbols: [ "TTC30B" ]

Links

ENSG00000196659 ∙ NCBI:150737 ∙ ∙ HGNC:26425 ∙ Uniprot:Q8N4P2 ∙ 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 IFT70B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFT70B 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				4		4
missense			54	8		62
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	54	12	0

Variants in IFT70B

This is a list of pathogenic ClinVar variants found in the IFT70B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-177550773-T-C		not specified	Uncertain significance (Apr 08, 2024)
2-177550795-T-C		not specified	Uncertain significance (Dec 03, 2024)
2-177550830-G-A		not specified	Uncertain significance (Feb 14, 2023)
2-177550843-C-T		not specified	Likely benign (Oct 10, 2023)
2-177550860-T-C		not specified	Uncertain significance (Jun 28, 2024)
2-177550888-T-A		not specified	Uncertain significance (Jan 31, 2024)
2-177550898-A-T		not specified	Uncertain significance (Jun 17, 2024)
2-177550903-G-C		not specified	Uncertain significance (Sep 02, 2024)
2-177550982-T-A		not specified	Uncertain significance (Feb 04, 2025)
2-177550989-G-A		not specified	Uncertain significance (Apr 07, 2022)
2-177551001-C-G		not specified	Uncertain significance (Jun 30, 2023)
2-177551039-G-C		not specified	Uncertain significance (Oct 25, 2022)
2-177551050-C-T		not specified	Uncertain significance (Sep 22, 2023)
2-177551081-G-C		not specified	Likely benign (Jul 25, 2024)
2-177551088-T-C		not specified	Uncertain significance (Jul 09, 2024)
2-177551128-C-T		not specified	Uncertain significance (Feb 04, 2025)
2-177551151-T-C		IFT70B-related disorder	Likely benign (Jun 01, 2022)
2-177551155-C-T		not specified	Likely benign (Jun 22, 2024)
2-177551158-G-C		not specified	Uncertain significance (Sep 16, 2021)
2-177551161-C-T		not specified	Uncertain significance (Dec 17, 2023)
2-177551165-A-G			Likely benign (Sep 01, 2024)
2-177551242-A-G		not specified	Uncertain significance (Dec 10, 2024)
2-177551279-A-G			Likely benign (Mar 01, 2025)
2-177551420-G-T			Likely benign (Feb 01, 2025)
2-177551421-C-T		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFT70B	protein_coding	protein_coding	ENST00000408939	1	4017

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.57e-8	0.613	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.571	371	341	1.09	0.0000168	4325
Missense in Polyphen		97	97.268	0.99724		1291
Synonymous	-2.10	168	137	1.23	0.00000673	1284
Loss of Function	1.14	14	19.4	0.722	9.95e-7	268

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

• Function: FUNCTION: Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip. {ECO:0000250}.
• Pathway: Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Intolerance Scores

• loftool: 0.544
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.21

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139
• ghis: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00474

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc30b

Gene ontology

• Biological process: intraciliary transport involved in cilium assembly;intraciliary transport
• Cellular component: cilium;intraciliary transport particle B;ciliary tip
• Molecular function: protein binding