HsaEX1017194 @ hg38
Exon Skipping
Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215]
Coordinates
chr1:162792659-162799937:+
Coord C1 exon
chr1:162792659-162792862
Coord A exon
chr1:162797802-162797916
Coord C2 exon
chr1:162799743-162799937
Length
115 bp
Sequences
Splice sites
3' ss Seq
ATTATCTTCTGCTGTTTCAGAAA
3' ss Score
8.95
5' ss Seq
CTGGTAAAG
5' ss Score
5.75
Exon sequences
Seq C1 exon
TGGCATTGGCCTGGCCCTCTGCAAGCGGCTGCTGGCGGAAGATGATGAGCTTCATCTGTGTTTGGCGTGCAGGAACATGAGCAAGGCAGAAGCTGTCTGTGCTGCTCTGCTGGCCTCTCACCCCACTGCTGAGGTCACCATTGTCCAGGTGGATGTCAGCAACCTGCAGTCGGTCTTCCGGGCCTCCAAGGAACTTAAGCAAAG
Seq A exon
AAAAGTGATTCATATGTTCTCCACAGCTGAAGGCCTGCTGACCCAGGGTGATAAGATCACTGCTGATGGACTTCAGGAGGTGTTTGAGACCAATGTCTTTGGCCATTTTATCCTG
Seq C2 exon
ATTCGGGAACTGGAGCCTCTCCTCTGTCACAGTGACAATCCATCTCAGCTCATCTGGACATCATCTCGCAGTGCAAGGAAATCTAATTTCAGCCTCGAGGACTTCCAGCACAGCAAAGGCAAGGAACCCTACAGCTCTTCCAAATATGCCACTGACCTTTTGAGTGTGGCTTTGAACAGGAACTTCAACCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132196_MULTIEX1-3/3=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0010620=adh_short=PD(87.7=95.9)
A:
PF0010620=adh_short=FE(18.2=100)
C2:
PF0010620=adh_short=PD(29.2=93.8)
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCTGGCGGAAGATGATGAG
R:
TTGCACTGCGAGATGATGTCC
Band lengths:
252-367
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains