HsaEX6066523 @ hg38
Exon Skipping
Gene
ENSG00000186452 | TMPRSS12
Description
transmembrane protease, serine 12 [Source:HGNC Symbol;Acc:HGNC:28779]
Coordinates
chr12:50858785-50887884:+
Coord C1 exon
chr12:50858785-50859053
Coord A exon
chr12:50885246-50885388
Coord C2 exon
chr12:50887262-50887884
Length
143 bp
Sequences
Splice sites
3' ss Seq
CTGGTATTTTTTGTTAACAGGTA
3' ss Score
8.76
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
CGATCCTTTAATGTGGACAGCTGTGATTGGAACTAATAATATACATGGACGCTATCCTCATACCAAGAAGATAAAAATTAAAGCAATCATTATTCATCCAAACTTCATTTTGGAATCTTATGTAAATGATATTGCACTTTTTCACTTAAAAAAAGCAGTGAGGTATAATGACTATATTCAGCCTATTTGCCTACCTTTTGATGTTTTCCAAATCCTGGACGGAAACACAAAGTGTTTTATAAGTGGCTGGGGAAGAACAAAAGAAGAAG
Seq A exon
GTAACGCTACAAATATTTTACAAGATGCAGAAGTGCATTATATTTCTCGAGAGATGTGTAATTCTGAGAGGAGTTATGGGGGAATAATTCCTAACACTTCATTTTGTGCAGGTGATGAAGATGGAGCTTTTGATACTTGCAGG
Seq C2 exon
GGTGACAGTGGGGGACCATTAATGTGCTACTTACCAGAATATAAAAGATTTTTTGTAATGGGAATTACCAGTTACGGACATGGCTGTGGTCGAAGAGGTTTTCCTGGTGTCTATATTGGGCCATCCTTCTACCAAAAGTGGCTGACAGAGCATTTCTTCCATGCAAGCACTCAAGGCATACTTACTATAAATATTTTACGTGGCCAGATCCTCATAGCTTTATGTTTTGTCATCTTACTAGCAACAACATAAAGAAATTCTGAAGGCTTTCATATCTTTATTTTGCATTGTGTCCCTTTCTATGTTCTATATAATGAACATCATTTATTCTTCTAGCAATTAATTGCCTACATTAGAGATTTCATGTGAACATTTTATGGGCTATAAGTATTGTGACAGATATACAATTGTAATTTTGGCACTGAATCACATGTCTCCTTGAAATATCTTGATTATTTTATAATCATAATTCTGTATCTGGAATACTCATAGAGTTTGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186452-'2-6,'2-5,5-6=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(38.1=100)
A:
PF0008921=Trypsin=FE(19.9=100)
C2:
PF0008921=Trypsin=PD(19.9=56.0)
Main Skipping Isoform:
ENST00000398458fB28427
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGGCTGGGGAAGAACAAAA
R:
AGCTATGAGGATCTGGCCACG
Band lengths:
247-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains