Special

HsaEX0030557 @ hg19

Exon Skipping

Gene
ENSG00000132196 | HSD17B7
Description
hydroxysteroid (17-beta) dehydrogenase 7 [Source:HGNC Symbol;Acc:5215]
Coordinates
chr1:162762449-162766467:+
Coord C1 exon
chr1:162762449-162762652
Coord A exon
chr1:162765411-162765453
Coord C2 exon
chr1:162766375-162766467
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_CASSETTE1
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),PF136841=Dak1_2=PD(83.6=82.4)
A:
PF0010620=adh_short=PD(10.3=60.0)
C2:
PF0010620=adh_short=PD(24.3=78.1),PF0010620=adh_short=PU(1.0=3.1)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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