STAT1 signal transducer and activator of transcription 1
Information
- Symbol
- STAT1
- Type
- protein-coding
- Description
- signal transducer and activator of transcription 1
- Entrez Gene ID
- 6772
- Genome
- hg19
- Position
- chr2:191,832,587-191,878,905
- Genome
- hg38
- Position
- chr2:190,967,861-191,014,179
- MIM
- 600555 OMIM
- HGNC
- HGNC:11362 HGNC
- Ensembl
- ENSG00000115415 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 34 | 102 |
Likely pathogenic | 0 | 78 |
Benign | 0 | 126 |
Likely benign | 0 | 498 |
Conflicting classifications of pathogenicity | 0 | 44 |
not provided | 1 | 2 |
Uncertain significance | 0 | 462 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
142 |
![]() |
1,052 |
![]() |
44 |
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
|
Category | : |
|
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 | CANDF7 |
SYNONYM | IMD31A |
SYNONYM | IMD31B |
SYNONYM | IMD31C |
SYNONYM | ISGF-3 |
SYNONYM | STAT91 |
MIM | 600555 OMIM |
HGNC | HGNC:11362 HGNC |
Ensembl | ENSG00000115415 Ensembl |
AllianceGenome | HGNC:11362 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000392323.6 | hg38 | chr2 | 190,975,642 | 191,014,197 | 38,556 |
ENST00000392322.7 | hg38 | chr2 | 190,975,537 | 191,014,168 | 38,632 |
ENST00000673847.1 | hg38 | chr2 | 190,944,703 | 191,014,228 | 69,526 |
ENST00000673841.1 | hg38 | chr2 | 190,975,537 | 191,014,231 | 38,695 |
ENST00000540176.6 | hg38 | chr2 | 190,969,151 | 191,014,231 | 45,081 |
ENST00000673816.1 | hg38 | chr2 | 190,908,460 | 191,014,228 | 105,769 |
ENST00000698145.1 | hg38 | chr2 | 190,969,173 | 191,014,141 | 44,969 |
ENST00000673952.1 | hg38 | chr2 | 190,974,049 | 191,014,228 | 40,180 |
ENST00000698142.1 | hg38 | chr2 | 190,968,694 | 191,014,158 | 45,465 |
ENST00000698141.1 | hg38 | chr2 | 190,967,861 | 191,014,179 | 46,319 |
ENST00000361099.8 | hg38 | chr2 | 190,969,149 | 191,014,171 | 45,023 |
ENST00000673942.1 | hg38 | chr2 | 190,969,312 | 191,014,161 | 44,850 |
ENST00000409465.5 | hg38 | chr2 | 190,970,291 | 191,013,955 | 43,665 |
ENST00000673777.1 | hg38 | chr2 | 190,969,312 | 191,014,160 | 44,849 |
ENST00000673816.1 | hg19 | chr2 | 191,773,186 | 191,878,954 | 105,769 |
ENST00000673847.1 | hg19 | chr2 | 191,809,429 | 191,878,954 | 69,526 |
ENST00000392322.7 | hg19 | chr2 | 191,840,263 | 191,878,894 | 38,632 |
ENST00000392323.6 | hg19 | chr2 | 191,840,368 | 191,878,923 | 38,556 |
ENST00000409465.5 | hg19 | chr2 | 191,835,017 | 191,878,681 | 43,665 |
ENST00000673777.1 | hg19 | chr2 | 191,834,038 | 191,878,886 | 44,849 |
ENST00000673841.1 | hg19 | chr2 | 191,840,263 | 191,878,957 | 38,695 |
ENST00000698141.1 | hg19 | chr2 | 191,832,587 | 191,878,905 | 46,319 |
ENST00000698142.1 | hg19 | chr2 | 191,833,420 | 191,878,884 | 45,465 |
ENST00000361099.8 | hg19 | chr2 | 191,833,875 | 191,878,897 | 45,023 |
ENST00000540176.6 | hg19 | chr2 | 191,833,877 | 191,878,957 | 45,081 |
ENST00000698145.1 | hg19 | chr2 | 191,833,899 | 191,878,867 | 44,969 |
ENST00000673952.1 | hg19 | chr2 | 191,838,775 | 191,878,954 | 40,180 |
ENST00000673942.1 | hg19 | chr2 | 191,834,038 | 191,878,887 | 44,850 |
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