RAI14

retinoic acid induced 14, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 5:34656327-34832612

Links

ENSG00000039560 ∙ NCBI:26064 ∙ OMIM:606586 ∙ HGNC:14873 ∙ Uniprot:Q9P0K7 ∙ 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 RAI14 gene.

• Inborn genetic diseases (27 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAI14 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			25	2	1	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	2	1

Variants in RAI14

This is a list of pathogenic ClinVar variants found in the RAI14 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-34757524-T-G			Benign (Jun 06, 2017)
5-34757584-T-G		not specified	Uncertain significance (May 23, 2023)
5-34796010-C-G		not specified	Uncertain significance (Feb 27, 2023)
5-34803720-G-A		not specified	Uncertain significance (Feb 05, 2024)
5-34808590-A-T		not specified	Uncertain significance (Jul 12, 2022)
5-34808599-T-C		not specified	Uncertain significance (Sep 17, 2021)
5-34808622-G-A		not specified	Uncertain significance (Nov 08, 2022)
5-34811076-T-A		not specified	Uncertain significance (Nov 21, 2023)
5-34811901-C-A		not specified	Uncertain significance (Aug 02, 2023)
5-34812194-A-G		not specified	Uncertain significance (Sep 28, 2022)
5-34813604-A-G		not specified	Uncertain significance (May 25, 2022)
5-34814612-A-G		not specified	Uncertain significance (Sep 22, 2023)
5-34814641-C-T		not specified	Uncertain significance (Feb 27, 2023)
5-34818798-C-G		not specified	Uncertain significance (Jan 09, 2024)
5-34818816-G-A		not specified	Uncertain significance (Jan 04, 2024)
5-34818842-A-G		not specified	Uncertain significance (Dec 17, 2021)
5-34818843-G-C		not specified	Uncertain significance (Sep 29, 2023)
5-34821849-A-C		not specified	Uncertain significance (Apr 21, 2022)
5-34822971-G-A		not specified	Uncertain significance (Dec 28, 2022)
5-34822985-C-A		not specified	Uncertain significance (Mar 29, 2023)
5-34823029-C-T		not specified	Uncertain significance (Apr 06, 2023)
5-34823071-A-G		not specified	Uncertain significance (Jan 06, 2023)
5-34823095-A-T		not specified	Uncertain significance (Sep 21, 2023)
5-34823309-G-C		not specified	Uncertain significance (Jul 25, 2023)
5-34823387-C-A		not specified	Uncertain significance (Jun 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAI14	protein_coding	protein_coding	ENST00000515799	17	176391

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.991	0.00878	125733	0	13	125746	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.62	401	503	0.797	0.0000250	6491
Missense in Polyphen		140	181.75	0.77029		2418
Synonymous	1.62	168	197	0.853	0.0000108	1770
Loss of Function	5.46	8	49.5	0.162	0.00000228	651

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000182
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000980	0.0000924
European (Non-Finnish)	0.0000621	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier. {ECO:0000250|UniProtKB:Q5U312}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.692
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.7

Haploinsufficiency Scores

• pHI: 0.244
• hipred: Y
• hipred_score: 0.544
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.736

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rai14

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: fibrillar center;nucleus;cytosol;cytoskeleton;cell cortex;cell junction