HsaINT1015928 @ hg38
Intron Retention
Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215]
Coordinates
chr1:162797802-162799937:+
Coord C1 exon
chr1:162797802-162797916
Coord A exon
chr1:162797917-162799742
Coord C2 exon
chr1:162799743-162799937
Length
1826 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAAG
5' ss Score
5.75
3' ss Seq
TTTTTTTTTCTTTCACCCAGATT
3' ss Score
9.7
Exon sequences
Seq C1 exon
AAAAGTGATTCATATGTTCTCCACAGCTGAAGGCCTGCTGACCCAGGGTGATAAGATCACTGCTGATGGACTTCAGGAGGTGTTTGAGACCAATGTCTTTGGCCATTTTATCCTG
Seq A exon
GTAAAGAAGCTGTGGGCTTAATAAGCTAATATTTCGTGTGATAGTTTCTGTAAAGCTCTGGGCACAGGGCATTATTATAGTTGAGCAGCCAGTTAACTGATTTAATCTCATGTTTGAGTTTTCTTGATTGCATTTGCCTTGTTTATTGTGAGCATGGAATACTTCTGGAAGCTTTCCTAGTAGATTTTTCTTTAATAAATGTACTAATAGTTTTTGATTTACAGAATTACTGCAAAGATAGTACAGAGACTTTCTGTATGCCCTACACCCAGTTTCCCCATTATTAACATTTCGCATTGGTATGATGCATTTGTCAAAATAGATGAATCAATTCTGCTACATTATTATTAACTAAAGTACACACTTTATTCAGGTTCTGTTTTTGCCTAATGTCTTTTTTCAGTTCTAGGATCCCATTCAAGATACTACATTACATTTAGCAGTCATGTCTCCTTAGGCTCTTCTTGGTTGTGACAGCTTCTCAGACTTTCCTTGTTTTTGATGACCTTGACAGTTTTGAGGAGTACTGCTTAGGTGTTTTGTAGACTCTCTCAATCGGGATTTGTCTGATGTTTTTCTCATGGTGAGACTGAAGAATGTGGTTTTTGGGAGGAAGGCCACAGAGGTAAAGTGACATTCTCATGACATCATATCAAGGGTGTATGCTATCAGTATGACTTCTCAGTGTTGATATTAACCTTGATCACCTGGCTTGAGGTCATGTTTGTCAGGTTTTTCCATTGTTAAGTTACTTTTTCTTTCTCCCTTTTCATACTCTACTTTTTGAAAGAAAGTTGGGCCGGGCACGGTGGCTCCTGCCTCTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCCATCTCTATCAAAAAACAAAATTAGCCGAGTGTGGTGACGCATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAAGCGGAAGTTGTGGTGAGCCGAGGTCATGCCATTGGACTCCAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAGAGAAAAAGAAAGAAAGTTACTATGTGCAGCCAATGCATACTGGCTAGTGCTCTACCTCCTTAAGAGTGGGTTATCTACAGAAATTATTTGGATTTTTTCCACAAGGGAGATTGTCAGTTCTCCTTTATTTATGTCTTTAATTCAGTCGTTTATTATATCCATATGGACTCATGTTTATGTATTTTCTGCTTTGAAATTATAAATACTATTTTATTTTCCTGCTCAAATTTTTTCAGTTTTGGCCACTGGGAACGCTTTCAGTTGGCTCCTGTATCTCTTTGGCACACCCCCATTGTTATGGTTTTCTCTTTTTGTTTTAGCTTTCGTTTTGAGCAGTTTCTTACTATCTGGCACTACAAGATCCTTCAGACTCATCTTGTGTATTTCCTTGTTCAGTCCTAGAATCAGCTACTTTTCTAAAGCCATATGTTTTCTTTTATCAGAGAATGGTTATTAGAAACCAAGATCTGGGTGCTTATTGCTGCTGAGATATCAGTGTCTTCTAAACCCTCTCTGCTGATAGACTAAGAGATATATATGTACATACTAACTCATGTATGTATACATATCTATAAATATTTTTCTGTGTAACTAATTCATGTCTCTTTTAGATAACTAGTTAATACTGATGTCTCTGACCCTAATCTCTTACCATACAGTACAGTGGTTTCAAAATTTTTATCTGTATTCTGTCAGTATATTTTAATACTTTTTTTTTTTCTTTCACCCAG
Seq C2 exon
ATTCGGGAACTGGAGCCTCTCCTCTGTCACAGTGACAATCCATCTCAGCTCATCTGGACATCATCTCGCAGTGCAAGGAAATCTAATTTCAGCCTCGAGGACTTCCAGCACAGCAAAGGCAAGGAACCCTACAGCTCTTCCAAATATGCCACTGACCTTTTGAGTGTGGCTTTGAACAGGAACTTCAACCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132196:ENST00000254521:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0010620=adh_short=FE(18.2=100)
A:
NA
C2:
PF0010620=adh_short=PD(29.2=93.8)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAAGTGATTCATATGTTCTCCACAG
R:
CTGCTGGTTGAAGTTCCTGTTCA
Band lengths:
310-2136
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains