DENND11

DENN domain containing 11, the group of DENN domain containing

Basic information

Region (hg38): 7:141656727-141702166

Previous symbols: [ "KIAA1147" ]

Links

ENSG00000257093 ∙ NCBI:57189 ∙ OMIM:620122 ∙ HGNC:29472 ∙ Uniprot:A4D1U4 ∙ 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 DENND11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DENND11 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						0
missense			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in DENND11

This is a list of pathogenic ClinVar variants found in the DENND11 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-141662687-A-G		not specified	Uncertain significance (Apr 04, 2023)
7-141662702-T-C		not specified	Uncertain significance (Oct 26, 2021)
7-141662733-G-A		not specified	Uncertain significance (Dec 22, 2023)
7-141662738-C-T		not specified	Uncertain significance (Dec 26, 2023)
7-141662757-T-G		not specified	Uncertain significance (Oct 17, 2023)
7-141662763-G-A		not specified	Uncertain significance (Jan 05, 2022)
7-141662826-T-C		not specified	Uncertain significance (May 29, 2024)
7-141664176-C-T		not specified	Uncertain significance (May 23, 2024)
7-141664212-C-T		not specified	Uncertain significance (May 09, 2022)
7-141664228-C-A		not specified	Uncertain significance (Jan 10, 2023)
7-141664913-T-C		not specified	Uncertain significance (May 21, 2024)
7-141664974-C-T		not specified	Uncertain significance (Jun 22, 2023)
7-141665006-T-C		not specified	Uncertain significance (Dec 21, 2022)
7-141665010-C-T		not specified	Uncertain significance (Dec 11, 2023)
7-141665022-C-T		not specified	Uncertain significance (Apr 25, 2022)
7-141665024-C-T		not specified	Uncertain significance (Dec 22, 2023)
7-141665226-C-T		not specified	Uncertain significance (Jun 07, 2023)
7-141665253-T-C		not specified	Uncertain significance (Apr 08, 2024)
7-141665270-C-A		not specified	Uncertain significance (Jan 09, 2024)
7-141665292-C-T		not specified	Uncertain significance (Feb 07, 2023)
7-141674089-C-T		not specified	Uncertain significance (Aug 13, 2021)
7-141674138-C-T		not specified	Uncertain significance (Jan 23, 2024)
7-141685530-G-C		not specified	Uncertain significance (Jan 03, 2024)
7-141685552-C-G		not specified	Uncertain significance (Feb 26, 2024)
7-141685557-G-A		not specified	Uncertain significance (May 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DENND11	protein_coding	protein_coding	ENST00000536163	9	45426

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000281	0.987	124635	0	18	124653	0.0000722

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	164	220	0.746	0.0000130	2945
Missense in Polyphen		40	66.772	0.59906		782
Synonymous	-0.412	89	84.2	1.06	0.00000514	894
Loss of Function	2.19	9	19.4	0.464	0.00000105	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000948	0.0000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.0000467	0.0000464
European (Non-Finnish)	0.000110	0.000106
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000334	0.0000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• pHI: 0.408
• hipred: N
• hipred_score: 0.352
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.354

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: E330009J07Rik