HsaINT1044709 @ hg38
Intron Retention
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37070484-37071032:-
Coord C1 exon
chr22:37070916-37071032
Coord A exon
chr22:37070653-37070915
Coord C2 exon
chr22:37070484-37070652
Length
263 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGC
5' ss Score
6.64
3' ss Seq
CCACCTGCCCCCATCCCCAGACT
3' ss Score
9
Exon sequences
Seq C1 exon
GGGTGCCATGTGGGACATTCACCTTCCAGTGTGAGGACCGGAGCTGCGTGAAGAAGCCCAACCCGCAGTGTGATGGGCGGCCCGACTGCAGGGACGGCTCGGATGAGGAGCACTGTG
Seq A exon
GTGAGCCCTGCCTGGCTGCCGGGGCCCTGGAGCTTGGGAGGGAGGGGGTGCCCACAGCAGGAAGCTGGAGGGAAATCTCACTGTTGTCCCCTGGTCTCTCTCTATCTCATCCTCTGCCCCCTTGCCTGGGTCCTGATGGTCTCTCCCCCTCCATCATTCTCCTGTTCTCTGTCTCTCCATCTCTTTCCTTTGCCCTTCCTCTCTGTCTGCTTCTCCCCTTCCCCTCCTCCTCTGTCCACCCCACCACCTGCCCCCATCCCCAG
Seq C2 exon
ACTGTGGCCTCCAGGGCCCCTCCAGCCGCATTGTTGGTGGAGCTGTGTCCTCCGAGGGTGAGTGGCCATGGCAGGCCAGCCTCCAGGTTCGGGGTCGACACATCTGTGGGGGGGCCCTCATCGCTGACCGCTGGGTGATAACAGCTGCCCACTGCTTCCAGGAGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045:ENST00000406725:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0005713=Ldl_recept_a=WD(100=95.0)
A:
NA
C2:
PF0008921=Trypsin=PU(20.0=80.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCATGTGGGACATTCACCTT
R:
CTGTCCTCCTGGAAGCAGTGG
Band lengths:
282-545
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains