SOX2-OT SOX2 overlapping transcript
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 0 |
| Likely pathogenic | 1 | 0 |
| not provided | 3 | 0 |
Ranking
| ClinVar | |
|---|---|
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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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| 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 | NCRNA00043 |
| SYNONYM | SOX2OT |
| MIM | 616338 OMIM |
| HGNC | HGNC:20209 HGNC |
| Ensembl | ENSG00000242808 Ensembl |
| AllianceGenome | HGNC:20209 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000642301.2 | hg38 | chr3 | 181,699,510 | 181,741,189 | 41,680 |
| ENST00000647055.1 | hg38 | chr3 | 180,989,775 | 181,023,250 | 33,476 |
| ENST00000643769.1 | hg38 | chr3 | 181,610,469 | 181,614,654 | 4,186 |
| ENST00000644358.1 | hg38 | chr3 | 181,723,193 | 181,740,840 | 17,648 |
| ENST00000665485.1 | hg38 | chr3 | 181,056,709 | 181,741,290 | 684,582 |
| ENST00000643236.2 | hg38 | chr3 | 180,989,771 | 181,741,401 | 751,631 |
| ENST00000597347.5 | hg38 | chr3 | 181,174,890 | 181,700,044 | 525,155 |
| ENST00000656613.1 | hg38 | chr3 | 180,989,779 | 181,742,884 | 753,106 |
| ENST00000642652.2 | hg38 | chr3 | 181,610,492 | 181,740,802 | 130,311 |
| ENST00000626948.3 | hg38 | chr3 | 180,989,770 | 181,791,029 | 801,260 |
| ENST00000626619.2 | hg38 | chr3 | 181,699,619 | 181,739,761 | 40,143 |
| ENST00000596250.7 | hg38 | chr3 | 181,699,223 | 181,742,892 | 43,670 |
| ENST00000626299.4 | hg38 | chr3 | 181,699,598 | 181,836,880 | 137,283 |
| ENST00000654538.1 | hg38 | chr3 | 180,989,793 | 181,742,448 | 752,656 |
| ENST00000644582.1 | hg38 | chr3 | 181,175,169 | 181,632,180 | 457,012 |
| ENST00000646683.1 | hg38 | chr3 | 180,989,816 | 181,740,820 | 751,005 |
| ENST00000642922.1 | hg38 | chr3 | 180,989,787 | 181,031,971 | 42,185 |
| ENST00000630553.1 | hg38 | chr3 | 181,699,599 | 181,836,831 | 137,233 |
| ENST00000665187.1 | hg38 | chr3 | 180,989,779 | 181,742,884 | 753,106 |
| ENST00000646949.2 | hg38 | chr3 | 180,989,773 | 181,740,778 | 751,006 |
| ENST00000642685.1 | hg38 | chr3 | 181,610,524 | 181,673,402 | 62,879 |
| ENST00000642218.1 | hg38 | chr3 | 181,698,644 | 181,740,765 | 42,122 |
| ENST00000628810.2 | hg38 | chr3 | 181,699,837 | 181,740,823 | 40,987 |
| ENST00000668295.3 | hg38 | chr3 | 180,989,766 | 181,118,567 | 128,802 |
| ENST00000476964.6 | hg38 | chr3 | 181,610,334 | 181,742,313 | 131,980 |
| ENST00000647034.2 | hg38 | chr3 | 181,726,992 | 181,742,470 | 15,479 |
| ENST00000702225.1 | hg38 | chr3 | 180,989,793 | 181,117,486 | 127,694 |
| ENST00000646508.1 | hg38 | chr3 | 180,989,790 | 181,130,996 | 141,207 |
| ENST00000597347.5 | hg19 | chr3 | 180,892,678 | 181,417,832 | 525,155 |
| ENST00000476964.6 | hg19 | chr3 | 181,328,122 | 181,460,101 | 131,980 |
| ENST00000596250.7 | hg19 | chr3 | 181,417,011 | 181,460,680 | 43,670 |
| ENST00000642301.2 | hg19 | chr3 | 181,417,298 | 181,458,977 | 41,680 |
| ENST00000642218.1 | hg19 | chr3 | 181,416,432 | 181,458,553 | 42,122 |
| ENST00000642652.2 | hg19 | chr3 | 181,328,280 | 181,458,590 | 130,311 |
| ENST00000642685.1 | hg19 | chr3 | 181,328,312 | 181,391,190 | 62,879 |
| ENST00000626948.3 | hg19 | chr3 | 180,707,558 | 181,508,817 | 801,260 |
| ENST00000626619.2 | hg19 | chr3 | 181,417,407 | 181,457,549 | 40,143 |
| ENST00000628810.2 | hg19 | chr3 | 181,417,625 | 181,458,611 | 40,987 |
| ENST00000626299.4 | hg19 | chr3 | 181,417,386 | 181,554,668 | 137,283 |
| ENST00000630553.1 | hg19 | chr3 | 181,417,387 | 181,554,619 | 137,233 |
| ENST00000644358.1 | hg19 | chr3 | 181,440,981 | 181,458,628 | 17,648 |
| ENST00000647034.2 | hg19 | chr3 | 181,444,780 | 181,460,258 | 15,479 |
| ENST00000656613.1 | hg19 | chr3 | 180,707,567 | 181,460,672 | 753,106 |
| ENST00000665187.1 | hg19 | chr3 | 180,707,567 | 181,460,672 | 753,106 |
| ENST00000668295.3 | hg19 | chr3 | 180,707,554 | 180,836,355 | 128,802 |
| ENST00000643236.2 | hg19 | chr3 | 180,707,559 | 181,459,189 | 751,631 |
| ENST00000646949.2 | hg19 | chr3 | 180,707,561 | 181,458,566 | 751,006 |
| ENST00000647055.1 | hg19 | chr3 | 180,707,563 | 180,741,038 | 33,476 |
| ENST00000642922.1 | hg19 | chr3 | 180,707,575 | 180,749,759 | 42,185 |
| ENST00000643769.1 | hg19 | chr3 | 181,328,257 | 181,332,442 | 4,186 |
| ENST00000646508.1 | hg19 | chr3 | 180,707,578 | 180,848,784 | 141,207 |
| ENST00000646683.1 | hg19 | chr3 | 180,707,604 | 181,458,608 | 751,005 |
| ENST00000644582.1 | hg19 | chr3 | 180,892,957 | 181,349,968 | 457,012 |
| ENST00000654538.1 | hg19 | chr3 | 180,707,581 | 181,460,236 | 752,656 |
| ENST00000665485.1 | hg19 | chr3 | 180,774,497 | 181,459,078 | 684,582 |
| ENST00000702225.1 | hg19 | chr3 | 180,707,581 | 180,835,274 | 127,694 |
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