KIAA1549L

KIAA1549 like

Basic information

Region (hg38): 11:33376108-33674102

Previous symbols: [ "C11orf69", "C11orf41" ]

Links

ENSG00000110427 ∙ NCBI:25758 ∙ OMIM:612297 ∙ HGNC:24836 ∙ Uniprot:Q6ZVL6 ∙ 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 KIAA1549L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1549L 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	3	7
missense			91	6	1	98
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	91	10	4

Variants in KIAA1549L

This is a list of pathogenic ClinVar variants found in the KIAA1549L region.

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

Position	Type	Phenotype	Significance	ClinVar
11-33542467-G-A		not specified	Uncertain significance (Nov 13, 2024)
11-33542492-T-C		not specified	Uncertain significance (Jan 23, 2024)
11-33542540-C-G		not specified	Uncertain significance (Jun 07, 2024)
11-33542554-A-G		not specified	Likely benign (Jun 22, 2021)
11-33542578-T-C		not specified	Uncertain significance (Dec 15, 2023)
11-33542600-G-T		not specified	Uncertain significance (Oct 09, 2024)
11-33542624-C-T		not specified	Likely benign (Dec 26, 2023)
11-33542627-C-T		not specified	Uncertain significance (Apr 25, 2022)
11-33542629-C-G		not specified	Uncertain significance (Apr 22, 2024)
11-33542633-C-A		not specified	Uncertain significance (Mar 19, 2024)
11-33542722-C-G		not specified	Uncertain significance (Dec 21, 2022)
11-33542764-G-A		not specified	Uncertain significance (Mar 31, 2023)
11-33542780-T-G		not specified	Uncertain significance (Jul 02, 2024)
11-33542804-A-G		not specified	Uncertain significance (Nov 10, 2022)
11-33542816-C-T		not specified	Uncertain significance (Nov 09, 2024)
11-33542828-A-G		not specified	Uncertain significance (Dec 28, 2023)
11-33542851-G-A		not specified	Uncertain significance (Jun 28, 2024)
11-33542858-C-T		not specified	Uncertain significance (Oct 27, 2022)
11-33542860-A-G		not specified	Uncertain significance (Mar 15, 2024)
11-33542923-C-T		not specified	Uncertain significance (Nov 29, 2024)
11-33543019-C-T		not specified	Uncertain significance (Nov 09, 2023)
11-33543076-C-T		not specified	Uncertain significance (Oct 10, 2023)
11-33543317-C-T		not specified	Uncertain significance (Dec 08, 2023)
11-33543337-C-G		not specified	Uncertain significance (Nov 21, 2024)
11-33543340-C-A		not specified	Uncertain significance (Nov 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1549L	protein_coding	protein_coding	ENST00000321505	20	132031

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.29e-7	1.00	124663	0	37	124700	0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.30	925	1.04e+3	0.887	0.0000601	11855
Missense in Polyphen		312	402.13	0.77588		4439
Synonymous	-0.858	459	436	1.05	0.0000285	3943
Loss of Function	4.94	25	69.4	0.360	0.00000375	810

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000411	0.000409
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000125	0.000124
Middle Eastern	0.0000557	0.0000556
South Asian	0.000332	0.000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0716

Intolerance Scores

• rvis_EVS: -3.24
• rvis_percentile_EVS: 0.44

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.270
• ghis: 0.579

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: D430041D05Rik
• Phenotype: skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); pigmentation phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Cellular component: integral component of membrane