ANKRD17

ankyrin repeat domain 17, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 4:73073376-73258798

Links

ENSG00000132466 ∙ NCBI:26057 ∙ OMIM:615929 ∙ HGNC:23575 ∙ Uniprot:O75179 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Chopra-Amiel-Gordon syndrome (Strong), mode of inheritance: AD
• syndromic intellectual disability (Strong), mode of inheritance: AD
• Chopra-Amiel-Gordon syndrome (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Chopra-Amiel-Gordan syndrome	AD	Allergy/Immunology/Infectious	Among other findings, the condition may involve susceptibility to infections, and awareness may allow preventative measures and early and aggressive treatment of infections	Allergy/Immunology/Infectious; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic	33909992

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD17 gene.

• Inborn_genetic_diseases (196 variants)
• not_provided (165 variants)
• Chopra-Amiel-Gordon_syndrome (72 variants)
• ANKRD17-related_disorder (34 variants)
• not_specified (19 variants)
• Hereditary_sensory_neuropathy-deafness-dementia_syndrome (1 variants)
• Neurodevelopmental_delay (1 variants)
• Intellectual_disability (1 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032217.5. 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			2	16	4	22
missense		13	347	27	2	389
nonsense	2	5	1			8
start loss						0
frameshift	11	8	2			21
splice donor/acceptor (+/-2bp)	2		2			4
Total	15	26	354	43	6

Highest pathogenic variant AF is 0.00000136809

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD17	protein_coding	protein_coding	ENST00000358602	34	185423

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.88e-15	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	5.36	802	1.36e+3	0.591	0.0000678	16805
Missense in Polyphen		97	300.9	0.32237		3523
Synonymous	0.181	490	495	0.990	0.0000260	5421
Loss of Function	9.13	2	101	0.0198	0.00000516	1312

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000180	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000272	0.0000264
Middle Eastern	0.000180	0.000163
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity). {ECO:0000250|UniProtKB:Q99NH0, ECO:0000269|PubMed:17276651, ECO:0000269|PubMed:19150984, ECO:0000269|PubMed:22328336, ECO:0000269|PubMed:23711367}.

Intolerance Scores

• loftool: 0.0262
• rvis_EVS: -2.94
• rvis_percentile_EVS: 0.55

Haploinsufficiency Scores

• pHI: 0.303
• hipred: Y
• hipred_score: 0.708
• ghis: 0.663

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.819

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd17
• Phenotype: embryo phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype; muscle phenotype

Gene ontology

• Biological process: blood vessel maturation;regulation of DNA replication;viral process;defense response to bacterium;positive regulation of I-kappaB kinase/NF-kappaB signaling;innate immune response;positive regulation of cell cycle;negative regulation of smooth muscle cell differentiation;positive regulation of G1/S transition of mitotic cell cycle;positive regulation of MDA-5 signaling pathway;positive regulation of RIG-I signaling pathway
• Cellular component: chromatin;nucleus;cytoplasm;membrane;nuclear membrane
• Molecular function: chromatin binding;RNA binding;protein binding