KIAA1549L

KIAA1549 like

Basic information

Region (hg38): 11:33376108-33674102

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

Links

ENSG00000110427NCBI:25758OMIM:612297HGNC:24836Uniprot:Q6ZVL6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
3
clinvar
7
missense
91
clinvar
6
clinvar
1
clinvar
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
11-33542492-T-C not specified Uncertain significance (Jan 23, 2024)3114249
11-33542540-C-G not specified Uncertain significance (Jun 07, 2024)3288176
11-33542554-A-G not specified Likely benign (Jun 22, 2021)2234202
11-33542578-T-C not specified Uncertain significance (Dec 15, 2023)3114238
11-33542600-G-T not specified Uncertain significance (Nov 09, 2021)3114239
11-33542624-C-T not specified Likely benign (Dec 26, 2023)3114242
11-33542627-C-T not specified Uncertain significance (Apr 25, 2022)2393642
11-33542629-C-G not specified Uncertain significance (Apr 22, 2024)3288175
11-33542633-C-A not specified Uncertain significance (Mar 19, 2024)3288178
11-33542722-C-G not specified Uncertain significance (Dec 21, 2022)2338743
11-33542764-G-A not specified Uncertain significance (Mar 31, 2023)2531726
11-33542804-A-G not specified Uncertain significance (Nov 10, 2022)2373070
11-33542828-A-G not specified Uncertain significance (Dec 28, 2023)3114247
11-33542858-C-T not specified Uncertain significance (Oct 27, 2022)2321326
11-33542860-A-G not specified Uncertain significance (Mar 15, 2024)3288181
11-33543019-C-T not specified Uncertain significance (Nov 09, 2023)2354723
11-33543076-C-T not specified Uncertain significance (Oct 10, 2023)3114266
11-33543317-C-T not specified Uncertain significance (Dec 08, 2023)3114267
11-33543436-C-T not specified Uncertain significance (Jan 23, 2023)2469922
11-33543455-C-G not specified Uncertain significance (May 25, 2022)2222889
11-33543523-G-A not specified Uncertain significance (Dec 27, 2023)3114234
11-33543564-A-C not specified Uncertain significance (Nov 17, 2022)2326265
11-33543568-G-T not specified Uncertain significance (Jun 30, 2022)3114235
11-33543617-G-A not specified Uncertain significance (Aug 12, 2022)2217439
11-33543632-C-T not specified Uncertain significance (Aug 13, 2021)3114236

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIAA1549Lprotein_codingprotein_codingENST00000321505 20132031
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.29e-71.001246630371247000.000148
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.309251.04e+30.8870.000060111855
Missense in Polyphen312402.130.775884439
Synonymous-0.8584594361.050.00002853943
Loss of Function4.942569.40.3600.00000375810

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004110.000409
Ashkenazi Jewish0.000.00
East Asian0.00005570.0000556
Finnish0.0001390.000139
European (Non-Finnish)0.0001250.000124
Middle Eastern0.00005570.0000556
South Asian0.0003320.000327
Other0.0001650.000165

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0716

Intolerance Scores

loftool
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
essential_gene_gene_trap
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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

Biological process
Cellular component
integral component of membrane
Molecular function