HsaEX7000611 @ hg38
Exon Skipping
Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215]
Coordinates
chr1:162797802-162803535:+
Coord C1 exon
chr1:162797802-162797916
Coord A exon
chr1:162799743-162799937
Coord C2 exon
chr1:162803431-162803535
Length
195 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTCTTTCACCCAGATT
3' ss Score
9.7
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
AAAAGTGATTCATATGTTCTCCACAGCTGAAGGCCTGCTGACCCAGGGTGATAAGATCACTGCTGATGGACTTCAGGAGGTGTTTGAGACCAATGTCTTTGGCCATTTTATCCTG
Seq A exon
ATTCGGGAACTGGAGCCTCTCCTCTGTCACAGTGACAATCCATCTCAGCTCATCTGGACATCATCTCGCAGTGCAAGGAAATCTAATTTCAGCCTCGAGGACTTCCAGCACAGCAAAGGCAAGGAACCCTACAGCTCTTCCAAATATGCCACTGACCTTTTGAGTGTGGCTTTGAACAGGAACTTCAACCAGCAG
Seq C2 exon
GGTCTCTATTCCAATGTGGCCTGTCCAGGTACAGCATTGACCAATTTGACATATGGAATTCTGCCTCCGTTTATATGGACGCTGTTGATGCCGGCAATATTGCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132196-'10-19,'10-13,19-19=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0010620=adh_short=FE(18.2=100)
A:
PF0010620=adh_short=PD(29.2=93.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATTCATATGTTCTCCACAGCTGA
R:
ATATTGCCGGCATCAACAGCG
Band lengths:
210-405
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains