HsaINT0169748 @ hg38
Intron Retention
Gene
ENSG00000187045 | TMPRSS6
Description
transmembrane protease, serine 6 [Source:HGNC Symbol;Acc:HGNC:16517]
Coordinates
chr22:37074610-37075280:-
Coord C1 exon
chr22:37075135-37075280
Coord A exon
chr22:37074709-37075134
Coord C2 exon
chr22:37074610-37074708
Length
426 bp
Sequences
Splice sites
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
3' ss Seq
GGTCCCCTGTGGTTTTGCAGCCT
3' ss Score
7.74
Exon sequences
Seq C1 exon
GCTGTGTGGCTTGCGCATCCTGCAGCCCTACGCCGAGAGGATCCCCGTGGTGGCCACGGCCGGGATCACCATCAACTTCACCTCCCAGATCTCCCTCACCGGGCCCGGTGTGCGGGTGCACTATGGCTTGTACAACCAGTCGGACC
Seq A exon
GTGAGTATGGGCAGCCGGGGGAACCCCCTGCAGTGACTCGCTGCCTCTTGGCCATCCCTGGAACCACCAAGGGGGCTGTGGGCAGCTGCTTATGAGGCTGAACAAAAGGAGAGAGAGAGTGTGTGTGTGTGTGTATGTGCTTGCACAAATTTATGCAGCTTTGTGTGCCCACGTGTGCAAGGCAGCCACAAGGGTTTGCAGGAATACACACTCATACATATCCACGTGTGTGTTGTGTATTCTGTGTGTGTGTCTGGATATGTATGTCTGCTTGGACTGTGTACACAGGTGCCCAGGACCACGTCTGTGGGTGCCTGTCCATGCGCGTGTGAGTGAACAGGTGCATGCGTGTCTTTGTGCGCCTTCGCGGCTACGCATGGCCTAATGGCGCCCTGCCTGCCTCCACGGTCCCCTGTGGTTTTGCAG
Seq C2 exon
CCTGCCCTGGAGAGTTCCTCTGTTCTGTGAATGGACTCTGTGTCCCTGCCTGTGATGGGGTCAAGGACTGCCCCAACGGCCTGGATGAGAGAAACTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187045:ENST00000406725:11
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:
PF0043115=CUB=PD(37.3=82.0)
A:
NA
C2:
PF0005713=Ldl_recept_a=PU(0.1=0.0)
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:
TGTGGCTTGCGCATCCTG
R:
GCAGTTTCTCTCATCCAGGCC
Band lengths:
240-666
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