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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 86.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_024874.5	NP_079150.3	20	yes	-
ENST00000325722.8	ENSP00000318406.3	20	yes	-
ENST00000440579.5	ENSP00000407576.1	12	-	-
ENST00000482929.6	ENSP00000420742.2	5	-	-

Phenotypes

GenCC

Source: genCC

• systemic lupus erythematosus (Supportive), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIAA0319L gene.

• not_specified (105 variants)
• not_provided (15 variants)

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. These statistics are base on transcript: NM_024874.5. 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				4	1	5
missense			98	15	1	114
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	102	19	2

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
		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

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

Gene ontology

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