SETD1B SET domain containing 1B, histone lysine methyltransferase
Information
- Symbol
- SETD1B
- Type
- protein-coding
- Description
- SET domain containing 1B, histone lysine methyltransferase
- Entrez Gene ID
- 23067
- Genome
- hg19
- Position
- chr12:122,241,915-122,270,562
- Genome
- hg38
- Position
- chr12:121,804,009-121,832,656
- MIM
- 611055 OMIM
- HGNC
- HGNC:29187 HGNC
- Ensembl
- ENSG00000139718 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 70 |
| Likely pathogenic | 0 | 52 |
| Benign | 0 | 66 |
| Likely benign | 0 | 260 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 458 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
112 |
 |
746 |
 |
14 |
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
|
| 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 | IDDSELD |
| SYNONYM | KMT2G |
| SYNONYM | Set1B |
| MIM | 611055 OMIM |
| HGNC | HGNC:29187 HGNC |
| Ensembl | ENSG00000139718 Ensembl |
| AllianceGenome | HGNC:29187 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000542440.5 | hg38 | chr12 | 121,804,180 | 121,832,584 | 28,405 |
| ENST00000619791.1 | hg38 | chr12 | 121,804,738 | 121,830,239 | 25,502 |
| ENST00000604567.6 | hg38 | chr12 | 121,804,009 | 121,832,656 | 28,648 |
| ENST00000604567.6 | hg19 | chr12 | 122,241,915 | 122,270,562 | 28,648 |
| ENST00000542440.5 | hg19 | chr12 | 122,242,086 | 122,270,490 | 28,405 |
| ENST00000619791.1 | hg19 | chr12 | 122,242,644 | 122,268,145 | 25,502 |
Genome browser