UAP1L1

UDP-N-acetylglucosamine pyrophosphorylase 1 like 1

Basic information

Region (hg38): 9:137077517-137084539

Links

ENSG00000197355NCBI:91373HGNC:28082Uniprot:Q3KQV9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UAP1L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UAP1L1 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
46
clinvar
1
clinvar
47
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 46 1 0

Variants in UAP1L1

This is a list of pathogenic ClinVar variants found in the UAP1L1 region.

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

Position Type Phenotype Significance ClinVar
9-137077555-G-A not specified Uncertain significance (Dec 02, 2022)2353652
9-137077561-G-A not specified Uncertain significance (Jan 03, 2024)3185363
9-137077599-T-G not specified Uncertain significance (Aug 18, 2021)2342887
9-137077623-C-G not specified Uncertain significance (Nov 13, 2023)3185368
9-137077657-A-G not specified Uncertain significance (Oct 19, 2024)3464912
9-137077677-C-T not specified Uncertain significance (Feb 22, 2023)2487065
9-137077684-G-A not specified Uncertain significance (Dec 26, 2023)3185359
9-137077690-C-G not specified Uncertain significance (Nov 15, 2021)2230435
9-137077696-A-C not specified Likely benign (Oct 06, 2021)2349070
9-137077715-C-A not specified Uncertain significance (Dec 19, 2022)2336893
9-137077755-C-G not specified Uncertain significance (Jan 16, 2024)3185360
9-137077759-C-G not specified Uncertain significance (Jun 29, 2022)3185361
9-137077761-G-A not specified Uncertain significance (Feb 06, 2023)2481350
9-137078055-C-T not specified Uncertain significance (Dec 20, 2023)3185362
9-137078083-T-C not specified Uncertain significance (Sep 03, 2024)3464908
9-137078092-T-G not specified Uncertain significance (Aug 20, 2024)3464907
9-137078116-T-A not specified Uncertain significance (Jan 31, 2022)2274636
9-137078135-G-C not specified Uncertain significance (Oct 11, 2024)3464910
9-137078199-C-T not specified Uncertain significance (May 01, 2022)2357192
9-137078214-C-G not specified Uncertain significance (Jan 30, 2024)3185364
9-137078220-G-A not specified Conflicting classifications of pathogenicity (Nov 01, 2022)2659799
9-137078533-C-G not specified Uncertain significance (Dec 19, 2022)2337110
9-137078565-C-A not specified Uncertain significance (Mar 25, 2022)2279817
9-137078632-G-A not specified Uncertain significance (Jun 22, 2023)2599765
9-137078982-A-G not specified Uncertain significance (Apr 08, 2024)3330480

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UAP1L1protein_codingprotein_codingENST00000409858 97039
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000003410.8111256580551257130.000219
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2622602720.9550.00001663224
Missense in Polyphen120138.480.866571458
Synonymous0.6111131220.9290.000007911088
Loss of Function1.341117.00.6498.02e-7220

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005830.000580
Ashkenazi Jewish0.000.00
East Asian0.00005530.0000544
Finnish0.00009370.0000924
European (Non-Finnish)0.0002640.000255
Middle Eastern0.00005530.0000544
South Asian0.0002970.000294
Other0.0003320.000326

dbNSFP

Source: dbNSFP

Pathway
Amino sugar and nucleotide sugar metabolism - Homo sapiens (human) (Consensus)

Intolerance Scores

loftool
0.784
rvis_EVS
-0.22
rvis_percentile_EVS
37.43

Haploinsufficiency Scores

pHI
0.189
hipred
N
hipred_score
0.251
ghis
0.526

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.240

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Uap1l1
Phenotype

Gene ontology

Biological process
UDP-N-acetylglucosamine biosynthetic process
Cellular component
Molecular function
UDP-N-acetylglucosamine diphosphorylase activity