HsaINT1015424 @ hg38
Intron Retention
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:HGNC:4886]
Coordinates
chr6:26092685-26093232:+
Coord C1 exon
chr6:26092685-26092960
Coord A exon
chr6:26092961-26093118
Coord C2 exon
chr6:26093119-26093232
Length
158 bp
Sequences
Splice sites
5' ss Seq
GGGGTATGT
5' ss Score
7.48
3' ss Seq
ACTTGCTTTTTCTGTTTTAGAGC
3' ss Score
12.58
Exon sequences
Seq C1 exon
TGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGG
Seq A exon
GTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGGTAATTATGGCAGTGAGATGAGGATCTGCTCTTTGTTAGGGGGTGGGCTGAGGGTGGCAATCAAAGGCTTTAACTTGCTTTTTCTGTTTTAG
Seq C2 exon
AGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704:ENST00000357618:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.079 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PD(4.3=4.3),PF0765410=C1-set=WD(100=90.3)
A:
NA
C2:
PF060247=DUF912=PU(82.2=94.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
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:
GGCCTTGAACTACTACCCCCA
R:
ACTCCAATGACTAGGGTGCCA
Band lengths:
249-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains