PABPC1L poly(A) binding protein cytoplasmic 1 like
Information
- Symbol
- PABPC1L
- Type
- protein-coding
- Description
- poly(A) binding protein cytoplasmic 1 like
- Entrez Gene ID
- 80336
- Genome
- hg19
- Position
- chr20:43,538,701-43,567,957
- Genome
- hg38
- Position
- chr20:44,910,060-44,939,316
- HGNC
- HGNC:15797 HGNC
- Ensembl
- ENSG00000101104 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 2 |
Likely benign | 0 | 10 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 74 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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84 |
![]() |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | C20orf119 |
SYNONYM | EPAB |
SYNONYM | PABPC1L1 |
SYNONYM | dJ1069P2.3 |
HGNC | HGNC:15797 HGNC |
Ensembl | ENSG00000101104 Ensembl |
AllianceGenome | HGNC:15797 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000217073.7 | hg38 | chr20 | 44,910,060 | 44,939,316 | 29,257 |
ENST00000255136.8 | hg38 | chr20 | 44,910,060 | 44,939,316 | 29,257 |
ENST00000255136.8 | hg19 | chr20 | 43,538,701 | 43,567,957 | 29,257 |
ENST00000217073.7 | hg19 | chr20 | 43,538,701 | 43,567,957 | 29,257 |
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