HsaINT0169761 @ hg38
Intron Retention
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37084727-37086419:-
Coord C1 exon
chr22:37086283-37086419
Coord A exon
chr22:37084840-37086282
Coord C2 exon
chr22:37084727-37084839
Length
1443 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
3' ss Seq
CAGCTGCTCTCCTGGTCCAGCCT
3' ss Score
4.45
Exon sequences
Seq C1 exon
GGTGTACGGCTGCAGCCGCCAGGAGCCCGTGGTGGAGGTTCTGGCGTCGGGGGCCATCATGGCGGTCGTCTGGAAGAAGGGCCTGCACAGCTACTACGACCCCTTCGTGCTCTCCGTGCAGCCGGTGGTCTTCCAGG
Seq A exon
GTGAGAGGTCAGGGGTCCCTGGGGCAGGGGAGGGGTGGTGGTAGAATCCAAGGGCCCTCCACTGGGCTCACTGCTCACCTTTTTTGCCCAAATTGAGGATGGGATGGGGAGAGGGAAGATTCTGGAAGCTCCTGCTGCTCTCCACTCCCCACCCCGGCCCCCCTCTTCCTTCCGTCGTTTGCACTTCCACCCCCCTCTTCCCCTTGACCGTCCTACCATTCGCAGTCTCTGTCTTCCTGGCATCGCTCCCTTGCTTCCCTCCTCTTTCTCTGTCCTTCCTTCTCTCTCCTTTTCTCTTTTCTGTGCTGACCGCCTCTCCTCCCTCCTCACTCGCCTGGACCTGTGTCCCCTCCCCTCTGCCCCTCACCCCCTCCCTGCCCTCTCCCCTTGGCACCCACCGGTGGCTGGGCCTGGAACACGGGTCTGTTTGCAGCAGGACTAAGAACTCCTTGGATTCCGCCCTAGACAGTCCGCTTACAGCCAAGAGGGCGCAGGGAGCTTGGGGAGGTGTGATGGCAGCACAGCCAGGCCATGGCCACTGGTGTGGCAGGTCTCCCACTGCCTTCCCAGCCCCCACCCTCCTCCTGCTTCGGGACCTCCCTCCTTGCCCCCTTCCCAGGAAGGGCACGTCCCACCCCGCATGGGACAGCTGTCCTGGGCCTGGACCAGCCATACTTCTGCGCAGGAGGCCCAAACTTTGCCATTTCTGGAGCTCAGGAGGGGAGGATGGCAGAGAGGAGGCCATAGAGTGTTGGCAGCTGCTTCTGCCTCACCTCTCTCCCCACTCTTCTCCCTCCCACTCAGGGTCCCAGCCCTCTTCTCGGTTTATCCCCAAACTGTCTGGCATAGACCTGGGTCCCCAGCTGGCCAAACTGGAGCGCTAAATGGGTAGCAGAGCTGTTCCCTTGGGAGTCTGACACAGGCTCGAGGCGGGAGGGAACAAAGGGCTTTGGGGGCCCTGGCCCAATGGAGAGATGGCCAGGGCAGGTGAGCATGCTCCTGTCCTGACCCCTGGACCCCTCAGCCTCTCACGGTGTAGCCTCAACCAAGCCACTCCTTTTCTCCGAACCTCATCTTGGAAAAGGGGAACAGCTCTCTCTCCCCCAGCCACCACCGTGAGGCCTGTGCAGGTGTGAATGCATTTTGTAAACTGGCGAGTGCTGTCCCGCAAATATCAATAACTAACACGGATCGAGCACTTACTACATGCCAGGCTGTTTGAATGTTTATGTCTTTTTAATCCACTCTACTACCCTATGAGGTGTGTGCTATTACTGTCCTCATTTTACAGATGAGGAAACTGAGACCCAGATTCACACAATCACATTCAACCACAGCAATTTGCTGGCAGAGGTGGTAGGGGTGGTGGGGTTACAAGCTGCGCCAGCCTGCTGGGAGGTGCAGCCAGGGGACCCCTGTGTAACAGCTGCTCTCCTGGTCCAG
Seq C2 exon
CCTGTGAAGTGAACCTGACGCTGGACAACAGGCTCGACTCCCAGGGCGTCCTCAGCACCCCGTACTTCCCCAGCTACTACTCGCCCCAAACCCACTGCTCCTGGCACCTCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045:ENST00000406725:8
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:
NO
A:
NA
C2:
PF0043115=CUB=PU(28.2=81.6)
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:
CAGGAGCCCGTGGTGGAG
R:
GCCAGGAGCAGTGGGTTTG
Band lengths:
223-1666
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains