ANKRD27

ankyrin repeat domain 27, the group of Ankyrin repeat domain containing|VPS9 domain containing|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 19:32597005-32676597

Links

ENSG00000105186 ∙ NCBI:84079 ∙ OMIM:618957 ∙ HGNC:25310 ∙ Uniprot:Q96NW4 ∙ 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 ANKRD27 gene.

• Inborn genetic diseases (46 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD27 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				1		1
missense			45	2		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	3	0

Variants in ANKRD27

This is a list of pathogenic ClinVar variants found in the ANKRD27 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-32598240-G-C		not specified	Uncertain significance (Dec 18, 2023)
19-32598303-T-A		not specified	Uncertain significance (Sep 14, 2022)
19-32598327-C-T		not specified	Likely benign (Aug 08, 2022)
19-32599733-G-C		not specified	Uncertain significance (Jun 06, 2022)
19-32599768-G-A		not specified	Uncertain significance (Jan 18, 2023)
19-32600050-C-G		not specified	Uncertain significance (Jun 13, 2022)
19-32604277-C-T		not specified	Uncertain significance (Jul 14, 2023)
19-32604294-C-T		not specified	Uncertain significance (May 08, 2023)
19-32604340-C-T		not specified	Uncertain significance (Aug 01, 2022)
19-32604343-C-T		not specified	Uncertain significance (May 26, 2022)
19-32605932-G-A		not specified	Uncertain significance (Oct 05, 2023)
19-32605947-T-G		not specified	Uncertain significance (Jan 07, 2022)
19-32607727-G-A		not specified	Uncertain significance (Sep 17, 2021)
19-32607738-G-A		not specified	Likely benign (Nov 13, 2023)
19-32607741-C-G		not specified	Uncertain significance (Nov 09, 2021)
19-32607747-T-C		not specified	Uncertain significance (Apr 07, 2022)
19-32607753-G-A		not specified	Uncertain significance (Jan 19, 2024)
19-32607754-C-A		not specified	Uncertain significance (Jan 04, 2024)
19-32607768-G-A		not specified	Uncertain significance (May 26, 2023)
19-32607786-C-T			Likely benign (Aug 01, 2022)
19-32607793-C-T		not specified	Uncertain significance (Mar 29, 2023)
19-32607832-T-C		not specified	Uncertain significance (Jun 27, 2022)
19-32615695-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-32615712-G-A			Likely benign (Aug 01, 2022)
19-32615771-G-C		not specified	Uncertain significance (Apr 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD27	protein_coding	protein_coding	ENST00000306065	28	79591

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.86e-31	0.000788	125555	1	192	125748	0.000768

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.271	602	584	1.03	0.0000340	6847
Missense in Polyphen		60	60.327	0.99457		628
Synonymous	-0.588	257	245	1.05	0.0000166	2015
Loss of Function	0.885	51	58.3	0.875	0.00000288	699

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00139	0.00132
Ashkenazi Jewish	0.00	0.00
East Asian	0.000603	0.000598
Finnish	0.000835	0.000832
European (Non-Finnish)	0.000748	0.000721
Middle Eastern	0.000603	0.000598
South Asian	0.00137	0.00131
Other	0.000852	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). {ECO:0000250|UniProtKB:Q3UMR0, ECO:0000269|PubMed:23104059, ECO:0000269|PubMed:24856514, ECO:0000305|PubMed:16525121, ECO:0000305|PubMed:18477474, ECO:0000305|PubMed:22705394}.
• Pathway: Vesicle-mediated transport;Membrane Trafficking;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.956
• rvis_EVS: -1.56
• rvis_percentile_EVS: 3.21

Haploinsufficiency Scores

• pHI: 0.601
• hipred: N
• hipred_score: 0.289
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.347

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd27
• Phenotype: skeleton phenotype; immune system phenotype; vision/eye phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: protein transport;negative regulation of SNARE complex assembly;endosome to melanosome transport;positive regulation of GTPase activity;early endosome to late endosome transport;neuron projection morphogenesis;positive regulation of dendrite morphogenesis;retrograde transport, endosome to plasma membrane
• Cellular component: lysosome;early endosome;late endosome;cytosol;plasma membrane;membrane;transport vesicle;cytoplasmic vesicle membrane;melanosome;neuron projection;tubular endosome
• Molecular function: SNARE binding;guanyl-nucleotide exchange factor activity;GTPase activator activity;protein binding;Rab guanyl-nucleotide exchange factor activity;Rab GTPase binding