SAXO4 stabilizer of axonemal microtubules 4
Information
- Symbol
- SAXO4
- Type
- protein-coding
- Description
- stabilizer of axonemal microtubules 4
- Entrez Gene ID
- 220004
- Genome
- hg19
- Position
- chr11:61,248,592-61,258,400
- Genome
- hg38
- Position
- chr11:61,481,120-61,490,928
- MIM
- 619047 OMIM
- HGNC
- HGNC:28869 HGNC
- Ensembl
- ENSG00000162148 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
84 |
 |
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
[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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| 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 | C11orf66 |
| SYNONYM | IIIG9 |
| SYNONYM | PPP1R32 |
| MIM | 619047 OMIM |
| HGNC | HGNC:28869 HGNC |
| Ensembl | ENSG00000162148 Ensembl |
| AllianceGenome | HGNC:28869 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000432063.6 | hg38 | chr11 | 61,481,120 | 61,490,928 | 9,809 |
| ENST00000338608.7 | hg38 | chr11 | 61,481,120 | 61,490,928 | 9,809 |
| ENST00000538185.1 | hg38 | chr11 | 61,489,038 | 61,490,927 | 1,890 |
| ENST00000366212.8 | hg38 | chr11 | 61,488,842 | 61,490,931 | 2,090 |
| ENST00000338608.7 | hg19 | chr11 | 61,248,592 | 61,258,400 | 9,809 |
| ENST00000432063.6 | hg19 | chr11 | 61,248,592 | 61,258,400 | 9,809 |
| ENST00000366212.8 | hg19 | chr11 | 61,256,314 | 61,258,403 | 2,090 |
| ENST00000538185.1 | hg19 | chr11 | 61,256,510 | 61,258,399 | 1,890 |
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