Special

HsaEX0066076 @ hg38

Exon Skipping

Gene
ENSG00000160183 | TMPRSS3
Description
transmembrane protease, serine 3 [Source:HGNC Symbol;Acc:HGNC:11877]
Coordinates
chr21:42382065-42383198:-
Coord C1 exon
chr21:42383033-42383198
Coord A exon
chr21:42382695-42382825
Coord C2 exon
chr21:42382065-42382234
Length
131 bp
Sequences
Splice sites
3' ss Seq
GACCCTGAGCTTGTTTTAAGGAT
3' ss Score
3.22
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
Exon sequences
Seq C1 exon
CCTGTGGTCATAGAAGGGGCTACAGCTCACGCATCGTGGGTGGAAACATGTCCTTGCTCTCGCAGTGGCCCTGGCAGGCCAGCCTTCAGTTCCAGGGCTACCACCTGTGCGGGGGCTCTGTCATCACGCCCCTGTGGATCATCACTGCTGCACACTGTGTTTATGA
Seq A exon
GATTGTAGCTCCTAGAGAAAGGGCAGACAGAAGAGGAAGGAAGCTCCTGTGCTGGAGGAAACCCACAAAAATGAAAGGACCTAGACCTTCCCATAGCTAATTCCAGTGGACCATGTTATGGCAGAGACAGG
Seq C2 exon
CTTGTACCTCCCCAAGTCATGGACCATCCAGGTGGGTCTAGTTTCCCTGTTGGACAATCCAGCCCCATCCCACTTGGTGGAGAAGATTGTCTACCACAGCAAGTACAAGCCAAAGAGGCTGGGCAATGACATCGCCCTTATGAAGCTGGCCGGGCCACTCACGTTCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160183_MULTIEX1-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.182 C2=0.000
Domain overlap (PFAM):

C1:
PF154941=SRCR_2=PD(5.0=8.9),PF0008921=Trypsin=PU(19.3=78.6)
A:
PF0008921=Trypsin=PD(26.2=47.1)
C2:
PF0008921=Trypsin=FE(25.0=100)


Main Inclusion Isoform:
ENST00000291532fB7197


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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:
AAACATGTCCTTGCTCTCGCA
R:
TGTCATTGCCCAGCCTCTTTG
Band lengths:
254-385
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