KIAA0319L

KIAA0319 like

Basic information

Region (hg38): 1:35393883-35557950

Links

ENSG00000142687 ∙ NCBI:79932 ∙ OMIM:613535 ∙ HGNC:30071 ∙ Uniprot:Q8IZA0 ∙ 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 KIAA0319L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA0319L 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				4	1	5
missense			38	8	1	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding			14		1	15
Total	0	0	52	12	3

Variants in KIAA0319L

This is a list of pathogenic ClinVar variants found in the KIAA0319L region.

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

Position	Type	Phenotype	Significance	ClinVar
1-35396575-A-C		not specified	Uncertain significance (Oct 17, 2023)
1-35396584-G-A		not specified	Uncertain significance (Apr 12, 2024)
1-35397381-C-T		not specified	Uncertain significance (Jun 19, 2024)
1-35397528-A-C		not specified	Uncertain significance (Mar 15, 2024)
1-35398452-A-G		not specified	Uncertain significance (Mar 20, 2023)
1-35398868-A-T		not specified	Uncertain significance (Aug 09, 2021)
1-35399539-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-35405074-G-A		not specified	Uncertain significance (Oct 13, 2021)
1-35405098-G-A		not specified	Uncertain significance (May 31, 2023)
1-35405176-G-C		not specified	Uncertain significance (May 26, 2023)
1-35405413-A-C		not specified	Uncertain significance (Sep 26, 2023)
1-35408010-C-T		not specified	Uncertain significance (Feb 10, 2023)
1-35408052-G-A		not specified	Uncertain significance (Feb 10, 2022)
1-35408067-G-A		not specified	Uncertain significance (Jun 07, 2024)
1-35415591-G-A		not specified	Uncertain significance (Feb 05, 2024)
1-35415601-A-T		not specified	Uncertain significance (Sep 22, 2023)
1-35418517-A-G		not specified	Uncertain significance (Feb 28, 2023)
1-35419520-G-A		not specified	Uncertain significance (Jul 27, 2021)
1-35434916-C-T		not specified	Uncertain significance (Feb 05, 2024)
1-35434965-C-T		not specified	Uncertain significance (Jan 23, 2023)
1-35435024-A-G		not specified	Uncertain significance (Jan 26, 2022)
1-35435034-C-T		not specified	Uncertain significance (Mar 25, 2024)
1-35435078-A-C		not specified	Uncertain significance (Apr 19, 2023)
1-35441087-C-T			Benign (Aug 17, 2018)
1-35441109-T-G		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA0319L	protein_coding	protein_coding	ENST00000325722	20	124461

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00122	0.999	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	455	559	0.814	0.0000277	6876
Missense in Polyphen		112	187.75	0.59653		2318
Synonymous	1.88	185	220	0.839	0.0000118	2062
Loss of Function	4.81	16	54.2	0.295	0.00000271	609

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000174	0.000163
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000174	0.000163
South Asian	0.0000996	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible role in axon guidance through interaction with RTN4R. {ECO:0000269|PubMed:20697954}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.760
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.4

Haploinsufficiency Scores

• pHI: 0.217
• hipred: N
• hipred_score: 0.396
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.794

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: AU040320
• Phenotype: immune system phenotype

Gene ontology

• Cellular component: Golgi membrane;plasma membrane;integral component of membrane;cytoplasmic vesicle
• Molecular function: protein binding