RPEL1

ribulose-5-phosphate-3-epimerase like 1

Basic information

Region (hg38): 10:103245887-103248016

Links

ENSG00000235376 ∙ NCBI:729020 ∙ ∙ HGNC:45241 ∙ Uniprot:Q2QD12 ∙ 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 RPEL1 gene.

• not_specified (36 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPEL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001143909.1. 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						0
missense			36			36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPEL1	protein_coding	protein_coding	ENST00000441178	1	2130

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0113	0.647	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.411	113	126	0.897	0.00000654	1515
Missense in Polyphen		31	44.34	0.69914		571
Synonymous	-0.0854	48	47.3	1.02	0.00000280	441
Loss of Function	0.445	3	3.95	0.759	2.38e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate. {ECO:0000250}.
• Pathway: Pentose phosphate pathway - Homo sapiens (human);Pentose and glucuronate interconversions - Homo sapiens (human);Pentose phosphate pathway (hexose monophosphate shunt);Metabolism of carbohydrates;Metabolism (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Gene Damage Prediction

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

Gene ontology

• Biological process: pentose-phosphate shunt;pentose-phosphate shunt, non-oxidative branch;pentose catabolic process;cellular carbohydrate metabolic process
• Cellular component: cytosol
• Molecular function: ribulose-phosphate 3-epimerase activity;metal ion binding