HsaINT0169754 @ hg19
Intron Retention
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:16517]
Coordinates
chr22:37461479-37463002:-
Coord C1 exon
chr22:37462866-37463002
Coord A exon
chr22:37462279-37462865
Coord C2 exon
chr22:37461479-37462278
Length
587 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TTCTCCTTTCCCCCTTTCAGGGT
3' ss Score
13.14
Exon sequences
Seq C1 exon
GCCCCATCAGCAACGCTCTGCAGAAAGTGGATGTGCAGTTGATCCCACAGGACCTGTGCAGCGAGGTCTATCGCTACCAGGTGACGCCACGCATGCTGTGTGCCGGCTACCGCAAGGGCAAGAAGGATGCCTGTCAG
Seq A exon
GTGAGTCCCCCGGGCATGGGAGGGAGAGAGGAGGGAGAAAGGATGCTGCCCACATCACCAGGGTCTGGCCCTTTGCTCACATCAGCCTGCTGAAGCCTCCCATCCTCCCAGCAAGGTGGTGATGGCCACCCCTACTTTACAGAAGAGGAGACTGGGGCTTAGAAAGGTTGAGGAGCTTGCCCAAGGTTGCAGAGCCACAGATCAGAAGAGATGCTGTGATGGGCAGGTGTTAGGCTCAAACCCAGTTCTGCTCCTTGCCCACCACAAGGCACTAGGCCCAGGGTCCCACAGTGAGGTGGATGCATGGAAGAAGAAAGGGGTGTCAGCCACAGAAGGGAGGCGGAGGCAGAGTGGGGGCGTGGGGACACAGCCACAGTTCCAGGAGGTCCCAGGCTGGCTGGAGGCCGGGGAGGGCTGGCTTGGGCTCTCTCCATTTAGCAGGCGAGGGGAAAGCAGAGCTTTAAGACTGAACGTGACTCTGGCACCCAGTCAATTCCCAACAGTCAGGACTTAATCCCTATGGCTCTTCACCTGGAAAAGGGGGTGCCCTTACCCTGCTTCAGTCCTTTCTCCTTTCCCCCTTTCAG
Seq C2 exon
GGTGACTCAGGTGGTCCGCTGGTGTGCAAGGCACTCAGTGGCCGCTGGTTCCTGGCGGGGCTGGTCAGCTGGGGCCTGGGCTGTGGCCGGCCTAACTACTTCGGCGTCTACACCCGCATCACAGGTGTGATCAGCTGGATCCAGCAAGTGGTGACCTGAGGAACTGCCCCCCTGCAAAGCAGGGCCCACCTCCTGGACTCAGAGAGCCCAGGGCAACTGCCAAGCAGGGGGACAAGTATTCTGGCGGGGGGTGGGGGAGAGAGCAGGCCCTGTGGTGGCAGGAGGTGGCATCTTGTCTCGTCCCTGATGTCTGCTCCAGTGATGGCAGGAGGATGGAGAAGTGCCAGCAGCTGGGGGTCAAGACGTCCCCTGAGGACCCAGGCCCACACCCAGCCCTTCTGCCTCCCAATTCTCTCTCCTCCGTCCCCTTCCTCCACTGCTGCCTAATGCAAGGCAGTGGCTCAGCAGCAAGAATGCTGGTTCTACATCCCGAGGAGTGTCTGAGGTGCGCCCCACTCTGTACAGAGGCTGTTTGGGCAGCCTTGCCTCCAGAGAGCAGATTCCAGCTTCGGAAGCCCCTGGTCTAACTTGGGATCTGGGAATGGAAGGTGCTCCCATCGGAGGGGACCCTCAGAGCCCTGGAGACTGCCAGGTGGGCCTGCTGCCACTGTAAGCCAAAAGGTGGGGAAGTCCTGACTCCAGGGTCCTTGCCCCACCCCTGCCTGCCACCTGGGCCCTCACAGCCCAGACCCTCACTGGGAGGTGAGCTCAGCTGCCCTTTGGAATAAAGCTGCCTGATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045-TMPRSS6:NM_153609:17
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(19.6=100)
A:
NA
C2:
PF0008921=Trypsin=PD(20.0=86.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTGCAGTTGATCCCACAGG
R:
CCAGAATACTTGTCCCCCTGC
Band lengths:
351-938
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)