HsaEX6026690 @ hg38
Exon Skipping
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37065436-37068681:-
Coord C1 exon
chr22:37068616-37068681
Coord A exon
chr22:37066826-37066962
Coord C2 exon
chr22:37065436-37066238
Length
137 bp
Sequences
Splice sites
3' ss Seq
CTGCCCTTGACCACGGACAGGCC
3' ss Score
3.4
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCCTACGGGCGGATGCTGTGGCCCTATTTTATGGATGGAGAAACCAAGGCTCAGAGACATGTTGCT
Seq A exon
GCCCCATCAGCAACGCTCTGCAGAAAGTGGATGTGCAGTTGATCCCACAGGACCTGTGCAGCGAGGTCTATCGCTACCAGGTGACGCCACGCATGCTGTGTGCCGGCTACCGCAAGGGCAAGAAGGATGCCTGTCAG
Seq C2 exon
GGTGACTCAGGTGGTCCGCTGGTGTGCAAGGCACTCAGTGGCCGCTGGTTCCTGGCGGGGCTGGTCAGCTGGGGCCTGGGCTGTGGCCGGCCTAACTACTTCGGCGTCTACACCCGCATCACAGGTGTGATCAGCTGGATCCAGCAAGTGGTGACCTGAGGAACTGCCCCCCTGCAAAGCAGGGCCCACCTCCTGGACTCAGAGAGCCCAGGGCAACTGCCAAGCAGGGGGACAAGTATTCTGGCGGGGGGTGGGGGAGAGAGCAGGCCCTGTGGTGGCAGGAGGTGGCATCTTGTCTCGTCCCTGATGTCTGCTCCAGTGATGGCAGGAGGATGGAGAAGTGCCAGCAGCTGGGGGTCAAGACGTCCCCTGAGGACCCAGGCCCACACCCAGCCCTTCTGCCTCCCAATTCTCTCTCCTCCGTCCCCTTCCTCCACTGCTGCCTAATGCAAGGCAGTGGCTCAGCAGCAAGAATGCTGGTTCTACATCCCGAGGAGTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045-'31-37,'31-36,33-37=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(8.7=100)
A:
PF0008921=Trypsin=FE(19.6=100)
C2:
PF0008921=Trypsin=PD(20.0=86.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGATGCTGTGGCCCTATTTT
R:
GAGGTGGGCCCTGCTTTG
Band lengths:
249-386
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains