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): 19:32597006-32676597

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.

not_specified (148 variants)
not_provided (3 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. These statistics are base on transcript: NM_000032139.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			141 clinvar	8 clinvar		149
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	141	10	0

Loading clinvar variants...

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