HsaEX1017192 @ hg38
Exon Skipping
Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215]
Coordinates
chr1:162804267-162812529:+
Coord C1 exon
chr1:162804267-162804323
Coord A exon
chr1:162805394-162805492
Coord C2 exon
chr1:162812298-162812529
Length
99 bp
Sequences
Splice sites
3' ss Seq
GACACATCCTTCCTTTCCAGGTA
3' ss Score
11.16
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
CTTCGCTTTTTTGCAAATGCATTCACTTTGACACCATATAATGGAACAGAAGCTCTG
Seq A exon
GTATGGCTTTTCCACCAAAAGCCTGAATCTCTCAATCCTCTGATCAAATATCTGAGTGCCACCACTGGCTTTGGAAGAAATTACATTATGACCCAGAAG
Seq C2 exon
ATGGACCTAGATGAAGACACTGCTGAAAAATTTTATCAAAAGTTACTGGAACTGGAAAAGCACATTAGGGTCACTATTCAAAAAACAGATAATCAGGCCAGGCTCAGTGGCTCATGCCTATAATTCCAGCACTTTGGGAGGCCAAGGCAGAAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGAGAAACATAGTGAGCCCTTGTCTCTACAAAAAGAAATAAAAATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132196_CASSETTE1
Average complexity
S
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:
NO
A:
NO
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:
GCAAATGCATTCACTTTGACACC
R:
AGTGCTGGAATTATAGGCATGAGC
Band lengths:
178-277
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains