ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Information
- Symbol
- ATIC
- Type
- protein-coding
- Description
- 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
- Entrez Gene ID
- 471
- Genome
- hg19
- Position
- chr2:216,176,782-216,214,487
- Genome
- hg38
- Position
- chr2:215,312,059-215,349,764
- MIM
- 601731 OMIM
- HGNC
- HGNC:794 HGNC
- Ensembl
- ENSG00000138363 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 54 |
| Likely benign | 0 | 64 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| drug response | 0 | 2 |
| Uncertain significance | 0 | 106 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
2 |
 |
44 |
 |
168 |
 |
8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| 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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| 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 | AICAR |
| SYNONYM | AICARFT |
| SYNONYM | HEL-S-70p |
| SYNONYM | IMPCHASE |
| SYNONYM | PURH |
| MIM | 601731 OMIM |
| HGNC | HGNC:794 HGNC |
| Ensembl | ENSG00000138363 Ensembl |
| AllianceGenome | HGNC:794 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000435675.5 | hg38 | chr2 | 215,312,091 | 215,349,763 | 37,673 |
| ENST00000236959.14 | hg38 | chr2 | 215,312,059 | 215,349,764 | 37,706 |
| ENST00000236959.14 | hg19 | chr2 | 216,176,782 | 216,214,487 | 37,706 |
| ENST00000435675.5 | hg19 | chr2 | 216,176,814 | 216,214,486 | 37,673 |
| Key | Value |
|---|---|
| strand | + |
| start | 216,176,678 |
| Gene Symbol | ATIC |
| Entrez GeneId | 471 |
| Chr Band | 2q35 |
| end | 216,214,495 |
| chr | chr2 |
| Name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
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