DNAI7

dynein axonemal intermediate chain 7, the group of Protein phosphatase 1 regulatory subunits|Dyneins, axonemal inner arm I1/f complex subunits

Basic information

Region (hg38): 12:25108289-25195162

Previous symbols: [ "CASC1", "CFAP94" ]

Links

ENSG00000118307 ∙ NCBI:55259 ∙ OMIM:616906 ∙ HGNC:29599 ∙ Uniprot:Q6TDU7 ∙ 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 DNAI7 gene.

• not_specified (79 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAI7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018272.5. 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				1		1
missense			74	5		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAI7	protein_coding	protein_coding	ENST00000395987	16	86743

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.89e-14	0.718	125595	1	152	125748	0.000609

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.826	307	351	0.876	0.0000161	4776
Missense in Polyphen		86	111.08	0.77421		1574
Synonymous	-0.0268	123	123	1.00	0.00000578	1290
Loss of Function	1.77	27	38.9	0.694	0.00000226	470

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00137	0.00135
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00150	0.00147
Finnish	0.000562	0.000554
European (Non-Finnish)	0.000418	0.000413
Middle Eastern	0.00150	0.00147
South Asian	0.00110	0.00105
Other	0.000676	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0857

Intolerance Scores

• loftool: 0.960
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.98

Haploinsufficiency Scores

• pHI: 0.148
• hipred: N
• hipred_score: 0.194
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0743

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Casc1
• Phenotype: homeostasis/metabolism phenotype; neoplasm