CCDC91

coiled-coil domain containing 91

Basic information

Region (hg38): 12:28133249-28581511

Links

ENSG00000123106 ∙ NCBI:55297 ∙ OMIM:617366 ∙ HGNC:24855 ∙ Uniprot:Q7Z6B0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autism spectrum disorder (Limited), mode of inheritance: AD
• punctate palmoplantar keratoderma (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC91 gene.

• not_specified (48 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC91 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018318.5. 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						0
missense			45	3	2	50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	3	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC91	protein_coding	protein_coding	ENST00000545336	12	446702

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000381	0.989	125681	0	46	125727	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.431	194	212	0.917	0.00000993	2900
Missense in Polyphen		57	69.693	0.81787		1031
Synonymous	-0.878	83	73.4	1.13	0.00000358	771
Loss of Function	2.30	13	25.5	0.509	0.00000115	335

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000181
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.00107	0.000979
Finnish	0.000191	0.000185
European (Non-Finnish)	0.000146	0.000141
Middle Eastern	0.00107	0.000979
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes. {ECO:0000269|PubMed:17596511}.

Recessive Scores

• pRec: 0.0845

Intolerance Scores

• loftool: 0.777
• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.26

Haploinsufficiency Scores

• pHI: 0.146
• hipred: Y
• hipred_score: 0.502
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.581

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc91

Gene ontology

• Biological process: protein transport;Golgi to lysosome transport
• Cellular component: nucleoplasm;Golgi apparatus;trans-Golgi network;cytosol;membrane
• Molecular function: identical protein binding