HsaEX6026688 @ hg38
Exon Skipping
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37069073-37071032:-
Coord C1 exon
chr22:37070916-37071032
Coord A exon
chr22:37070484-37070652
Coord C2 exon
chr22:37069073-37069344
Length
169 bp
Sequences
Splice sites
3' ss Seq
CCACCTGCCCCCATCCCCAGACT
3' ss Score
9
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGGTGCCATGTGGGACATTCACCTTCCAGTGTGAGGACCGGAGCTGCGTGAAGAAGCCCAACCCGCAGTGTGATGGGCGGCCCGACTGCAGGGACGGCTCGGATGAGGAGCACTGTG
Seq A exon
ACTGTGGCCTCCAGGGCCCCTCCAGCCGCATTGTTGGTGGAGCTGTGTCCTCCGAGGGTGAGTGGCCATGGCAGGCCAGCCTCCAGGTTCGGGGTCGACACATCTGTGGGGGGGCCCTCATCGCTGACCGCTGGGTGATAACAGCTGCCCACTGCTTCCAGGAGGACAG
Seq C2 exon
CATGGCCTCCACGGTGCTGTGGACCGTGTTCCTGGGCAAGGTGTGGCAGAACTCGCGCTGGCCTGGAGAGGTGTCCTTCAAGGTGAGCCGCCTGCTCCTGCACCCGTACCACGAAGAGGACAGCCATGACTACGACGTGGCGCTGCTGCAGCTCGACCACCCGGTGGTGCGCTCGGCCGCCGTGCGCCCCGTCTGCCTGCCCGCGCGCTCCCACTTCTTCGAGCCCGGCCTGCACTGCTGGATTACGGGCTGGGGCGCCTTGCGCGAGGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045-'27-31,'27-30,29-31=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:
PF0005713=Ldl_recept_a=WD(100=95.0)
A:
PF0008921=Trypsin=PU(20.0=80.7)
C2:
PF0008921=Trypsin=FE(39.6=100)
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:
GCCATGTGGGACATTCACCTT
R:
GTCATGGCTGTCCTCTTCGTG
Band lengths:
243-412
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains