HsaINT0169758 @ hg38
Intron Retention
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37095551-37096090:-
Coord C1 exon
chr22:37095906-37096090
Coord A exon
chr22:37095593-37095905
Coord C2 exon
chr22:37095551-37095592
Length
313 bp
Sequences
Splice sites
5' ss Seq
TGGGTCAGT
5' ss Score
4.68
3' ss Seq
TGTTCATTTCCTTTTATCAGAAG
3' ss Score
7.52
Exon sequences
Seq C1 exon
GGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTAGTGATCCTGG
Seq A exon
GTCAGTACTGCGAGTGGAAACGTGGGGTTGGCCTCATGAGGTTGGGGGAAACAAGCTGTGGTGTGGCCCGGGGAGGCTGCCTGCCAGGCCTGGGGTGCTGTCAGGGTGGGCCCCCCAGGAGAGCCCCCCAGGTGAGGTAGCAGTGCCATTGCATTCAAGGAGCCAGGAAAGAAGGGTGGGATGGGGGCATTTAGGGTAAATCTCAGACAAGGCTGGCTCCAAGGGTCTCCTCTAATTTTATTTTCATTGTATTTTCTTTTCTTTTTTTTTTTTTTTGTTCTTGTTTATTTGTTTGTTCATTTCCTTTTATCAG
Seq C2 exon
AAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045:ENST00000406725:5
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:
PF0139015=SEA=PD(40.4=66.7)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCCCTCACCTGCTTCTTCT
R:
CCAGCGTGGAATTCAATGCAG
Band lengths:
222-535
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains