USF1 upstream transcription factor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
risk factor | 0 | 4 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
16 |
![]() |
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
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
|
Category | : |
|
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 | FCHL |
SYNONYM | FCHL1 |
SYNONYM | HYPLIP1 |
SYNONYM | MLTF |
SYNONYM | MLTFI |
SYNONYM | UEF |
SYNONYM | bHLHb11 |
MIM | 191523 OMIM |
HGNC | HGNC:12593 HGNC |
Ensembl | ENSG00000158773 Ensembl |
AllianceGenome | HGNC:12593 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000368021.7 | hg38 | chr1 | 161,039,251 | 161,045,977 | 6,727 |
ENST00000368020.5 | hg38 | chr1 | 161,039,251 | 161,044,941 | 5,691 |
ENST00000368019.5 | hg38 | chr1 | 161,039,855 | 161,043,359 | 3,505 |
ENST00000368020.5 | hg19 | chr1 | 161,009,041 | 161,014,731 | 5,691 |
ENST00000368021.7 | hg19 | chr1 | 161,009,041 | 161,015,767 | 6,727 |
ENST00000368019.5 | hg19 | chr1 | 161,009,645 | 161,013,149 | 3,505 |
Genome browser