HsaEX6026678 @ hg38
Exon Skipping
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37086283-37096715:-
Coord C1 exon
chr22:37096648-37096715
Coord A exon
chr22:37095906-37096090
Coord C2 exon
chr22:37086283-37086419
Length
185 bp
Sequences
Splice sites
3' ss Seq
CTCACTTCTGCCTGCCTTAGGGA
3' ss Score
8.91
5' ss Seq
TGGGTCAGT
5' ss Score
4.68
Exon sequences
Seq C1 exon
CTCAAGGAGCTCATCACCAGCACCCGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCCTTTGG
Seq A exon
GGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTAGTGATCCTGG
Seq C2 exon
GGTGTACGGCTGCAGCCGCCAGGAGCCCGTGGTGGAGGTTCTGGCGTCGGGGGCCATCATGGCGGTCGTCTGGAAGAAGGGCCTGCACAGCTACTACGACCCCTTCGTGCTCTCCGTGCAGCCGGTGGTCTTCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045_MULTIEX1-1/3=C1-C2
Average complexity
C2
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:
PF0139015=SEA=FE(21.2=100)
A:
PF0139015=SEA=PD(40.4=66.7)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCAAGGAGCTCATCACCAGC
R:
CCTGGAAGACCACCGGCT
Band lengths:
205-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains