HsaEX0030557 @ hg38
Exon Skipping
Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215]
Coordinates
chr1:162792659-162796677:+
Coord C1 exon
chr1:162792659-162792862
Coord A exon
chr1:162795621-162795663
Coord C2 exon
chr1:162796585-162796677
Length
43 bp
Sequences
Splice sites
3' ss Seq
CATTTGTCAATTATTTATAGGAT
3' ss Score
6.45
5' ss Seq
CATGTATGT
5' ss Score
5.71
Exon sequences
Seq C1 exon
TGGCATTGGCCTGGCCCTCTGCAAGCGGCTGCTGGCGGAAGATGATGAGCTTCATCTGTGTTTGGCGTGCAGGAACATGAGCAAGGCAGAAGCTGTCTGTGCTGCTCTGCTGGCCTCTCACCCCACTGCTGAGGTCACCATTGTCCAGGTGGATGTCAGCAACCTGCAGTCGGTCTTCCGGGCCTCCAAGGAACTTAAGCAAAG
Seq A exon
GATGATCAAGAAATGGTTGTATGTGATCTGTGTTGAAGACCAT
Seq C2 exon
GTTTCAGAGATTAGACTGTATATATCTAAATGCTGGGATCATGCCTAATCCACAACTAAATATCAAAGCACTTTTCTTTGGCCTCTTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132196_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
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=PD(10.3=60.0)
C2:
PF0010620=adh_short=PD(24.3=78.1)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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:
CTGCTGAGGTCACCATTGTCC
R:
GTGGATTAGGCATGATCCCAGC
Band lengths:
132-175
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development