HsaINT1015423 @ hg38
Intron Retention
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:HGNC:4886]
Coordinates
chr6:26091314-26092960:+
Coord C1 exon
chr6:26091314-26091589
Coord A exon
chr6:26091590-26092684
Coord C2 exon
chr6:26092685-26092960
Length
1095 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGG
5' ss Score
9.26
3' ss Seq
CCTTCCTCTTTCCTGTCAAGTGC
3' ss Score
7.09
Exon sequences
Seq C1 exon
AGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAG
Seq A exon
GTATGGTGGAAACACACTTCTGCCCCTATACTCTAGTGGCAGAGTGGAGGAGGTTGCAGGGCACGGAATCCCTGGTTGGAGTTTCAGAGGTGGCTGAGGCTGTGTGCCTCTCCAAATTCTGGGAAGGGACTTTCTCAATCCTAGAGTCTCTACCTTATAATTGAGATGTATGAGACAGCCACAAGTCATGGGTTTAATTTCTTTTCTCCATGCATATGGCTCAAAGGGAAGTGTCTATGGCCCTTGCTTTTTATTTAACCAATAATCTTTTGTATATTTATACCTGTTAAAAATTCAGAAATGTCAAGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTAAAAAAATACAAAAATTAGCTGGTCACAGTCATGCGCACCTGTAGTCCCAGCTAATTGGAAGGCTGAGGCAGGAGCATCGCTTGAACCTGGGAAGCGGAAGTTGCACTGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATATTTACATGTGAGGAGAACAAGCTGATCTGACTGCTCTCCAAGTGACACTGTGTTAGAGTCCAATCTTAGGACACAAAATGGTGTCTCTCCTGTAGCTTGTTTTTTTCTGAAAAGGGTATTTCCTTCCTCCAACCTATAGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAG
Seq C2 exon
TGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704:ENST00000357618:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=NA C2=0.079
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PD(49.7=94.6),PF0765410=C1-set=PU(8.5=7.5)
A:
NA
C2:
PF0012913=MHC_I=PD(4.3=4.3),PF0765410=C1-set=WD(100=90.3)
Main Inclusion Isoform:
NA
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCCTGGGCTGTGAAATGC
R:
TCATGGTGATGTTCTGGGGGT
Band lengths:
354-1449
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains