PABIR2 PABIR family member 2
Information
- Symbol
- PABIR2
- Type
- protein-coding
- Description
- PABIR family member 2
- Entrez Gene ID
- 159090
- Genome
- hg19
- Position
- chrX:133,903,596-133,931,235
- Genome
- hg38
- Position
- chrX:134,769,566-134,797,205
- HGNC
- HGNC:30490 HGNC
- Ensembl
- ENSG00000156504 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 8 |
not provided | 6 | 0 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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24 |
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0 |
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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Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | FAM122B |
SYNONYM | SPACIA2 |
HGNC | HGNC:30490 HGNC |
Ensembl | ENSG00000156504 Ensembl |
AllianceGenome | HGNC:30490 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000486347.5 | hg38 | chrX | 134,771,574 | 134,796,274 | 24,701 |
ENST00000343004.10 | hg38 | chrX | 134,769,566 | 134,797,205 | 27,640 |
ENST00000370790.5 | hg38 | chrX | 134,769,566 | 134,797,134 | 27,569 |
ENST00000611027.2 | hg38 | chrX | 134,772,101 | 134,797,187 | 25,087 |
ENST00000493333.5 | hg38 | chrX | 134,772,079 | 134,797,187 | 25,109 |
ENST00000298090.10 | hg38 | chrX | 134,769,567 | 134,797,232 | 27,666 |
ENST00000370790.5 | hg19 | chrX | 133,903,596 | 133,931,164 | 27,569 |
ENST00000343004.10 | hg19 | chrX | 133,903,596 | 133,931,235 | 27,640 |
ENST00000298090.10 | hg19 | chrX | 133,903,597 | 133,931,262 | 27,666 |
ENST00000486347.5 | hg19 | chrX | 133,905,604 | 133,930,304 | 24,701 |
ENST00000493333.5 | hg19 | chrX | 133,906,109 | 133,931,217 | 25,109 |
ENST00000611027.2 | hg19 | chrX | 133,906,131 | 133,931,217 | 25,087 |
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