HsaEX7101727 @ hg38
Exon Skipping
Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215]
Coordinates
chr1:162799743-162804323:+
Coord C1 exon
chr1:162799743-162799937
Coord A exon
chr1:162800213-162800314
Coord C2 exon
chr1:162804267-162804323
Length
102 bp
Sequences
Splice sites
3' ss Seq
TGGTACTTGCTGTGTTTCAGGTG
3' ss Score
9.89
5' ss Seq
AACTTAAGT
5' ss Score
2.23
Exon sequences
Seq C1 exon
ATTCGGGAACTGGAGCCTCTCCTCTGTCACAGTGACAATCCATCTCAGCTCATCTGGACATCATCTCGCAGTGCAAGGAAATCTAATTTCAGCCTCGAGGACTTCCAGCACAGCAAAGGCAAGGAACCCTACAGCTCTTCCAAATATGCCACTGACCTTTTGAGTGTGGCTTTGAACAGGAACTTCAACCAGCAG
Seq A exon
GTGCTGTATTCGTCTGTGTATGTCATTAAATACCTGCCTCATTACATGGAGGTGGGTCTAAGTATTACCATTTTCAGATGAGGACACTAAATCTCGGAGAAC
Seq C2 exon
CTTCGCTTTTTTGCAAATGCATTCACTTTGACACCATATAATGGAACAGAAGCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132196-'19-21,'19-15,20-21=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0010620=adh_short=PD(29.2=93.8)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCGGGAACTGGAGCCTCTC
R:
CAGAGCTTCTGTTCCATTATATGGTG
Band lengths:
252-354
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains