HsaINT0075829 @ hg19
Intron Retention
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:4886]
Coordinates
chr6:26087509-26091332:+
Coord C1 exon
chr6:26087509-26087744
Coord A exon
chr6:26087745-26091068
Coord C2 exon
chr6:26091069-26091332
Length
3324 bp
Sequences
Splice sites
5' ss Seq
TGCGTGAGT
5' ss Score
7.55
3' ss Seq
GCCTGTTGCTCTGTCTCCAGGTT
3' ss Score
9.92
Exon sequences
Seq C1 exon
CTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGC
Seq A exon
GTGAGTCCGAGGGCTGCGGGCGAACTAGGGGCGCGGCGGGGGTGGAAAAATCGAAACTAGCTTTTTCTTTGCGCTTGGGAGTTTGCTAACTTTGGAGGACCTGCTCAACCCTATCCGCAAGCCCCTCTCCCTACTTTCTGCGTCCAGACCCCGTGAGGGAGTGCCTACCACTGAACTGCAGATAGGGGTCCCTCGCCCCAGGACCTGCCCCCTCCCCCGGCTGTCCCGGCTCTGCGGAGTGACTTTTGGAACCGCCCACTCCCTTCCCCCAACTAGAATGCTTTTAAATAAATCTCGTAGTTCCTCACTTGAGCTGAGCTAAGCCTGGGGCTCCTTGAACCTGGAACTCGGGTTTATTTCCAATGTCAGCTGTGCAGTTTTTTCCCCAGTCATCTCCAAACAGGAAGTTCTTCCCTGAGTGCTTGCCGAGAAGGCTGAGCAAACCCACAGCAGGATCCGCACGGGGTTTCCACCTCAGAACGAATGCGTTGGGCGGTGGGGGCGCGAAAGAGTGGCGTTGGGGATCTGAATTCTTCACCATTCCACCCACTTTTGGTGAGACCTGGGGTGGAGGTCTCTAGGGTGGGAGGCTCCTGAGAGAGGCCTACCTCGGGCCTTTCCCCACTCTTGGCAATTGTTCTTTTGCCTGGAAAATTAAGTATATGTTAGTTTTGAACGTTTGAACTGAACAATTCTCTTTTCGGCTAGGCTTTATTGATTTGCAATGTGCTGTGTAATTAAGAGGCCTCTCTACAAAGTACTGATAATGAACATGTAAGCAATGCACTCACTTCTAAGTTACATTCATATCTGATCTTATTTGATTTTCACTAGGCATAGGGAGGTAGGAGCTAATAATACGTTTATTTTACTAGAAGTTAACTGGAATTCAGATTATATAACTCTTTTCAGGTTACAAAGAACATAAATAATCTGGTTTTCTGATGTTATTTCAAGTACTACAGCTGCTTCTAATCTTAGTTGACAGTGATTTTGCCCTGTAGTGTAGCACAGTGTTCTGTGGGTCACACGCCGGCCTCAGCACAGCACTTTGAGTTTTGGTACTACGTGTATCCACATTTTACACATGACAAGAATGAGGCATGGCACGGCCTGCTTCCTGGCAAATTTATTCAATGGTACACTGGGCTTTGGTGGCAGAGCTCATGTCTCCACTTCATAGCTATGATTCTTAAACATCACACTGCATTAGAGGTTGAATAATAAAATTTCATGTTGAGCAGAAATATTCATTGTTTACAAGTGTAAATGAGTCCCAGCCATGTGTTGCACTGTTCAAGCCCCAAGGGAGAGAGCAGGGAAACAAGTCTTTACCCTTTGATATTTTGCATTCTAGTGGGAGAGATGACAATAAGCAAATGAGCAGAAAGATATACAACATCAGGAAATCATGGGTGTTGTGAGAAGCAGAGAAGTCAGGGCAAGTCACTCTGGGGCTGACACTTGAGCAGAGACATGAAGGAAATAAGAATGATATTGACTGGGAGCAGTATTTCCCAGGCAAACTGAGTGGGCCTGGCAAGTTGGATTAAAAAGCGGGTTTTCTCAGCACTACTCATGTGTGTGTGTGTGGGGGGGGGGGGCGGCGTGGGGGTGGGAAGGGGGACTACCATCTGCATGTAGGATGTCTAGCAGTATCCTGTCCTCCCTACTCACTAGGTGCTAGGAGCACTCCCCCAGTCTTGACAACCAAAAATGTCTCTAAACTTTGCCACATGTCACCTAGTAGACAAACTCCTGGTTAAGAAGCTCGGGTTGAAAAAAATAAACAAGTAGTGCTGGGGAGTAGAGGCCAAGAAGTAGGTAATGGGCTCAGAAGAGGAGCCACAAACAAGGTTGTGCAGGCGCCTGTAGGCTGTGGTGTGAATTCTAGCCAAGGAGTAACAGTGATCTGTCACAGGCTTTTAAAAGATTGCTCTGGCTGCTATGTGGAAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTGATCCTAGCTACTCGGGAGGCTGAGGTGGAGGGTATTGCTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGACTGTGCCACTGTACTTCAGCCTAGGTGACAGAGCAAGACCCTGTCTCCCCTGACCCCCTGAAAAAGAGAAGAGTTAAAGTTGACTTTGTTCTTTATTTTAATTTTATTGGCCTGAGCAGTGGGGTAATTGGCAATGCCATTTCTGAGATGGTGAAGGCAGAGGAAAGAGCAGTTTGGGGTAAATCAAGGATCTGCATTTGGACATGTTAAGTTTGAGATTCCAGTCAGGCTTCCAAGTGGTGAGGCCACATAGGCAGTTCAGTGTAAGAATTCAGGACCAAGGCTGGGCACGGTGGCTCACTTCTGTAATCCCAGCACTTTGGTGGCTGAGGCAGGTAGATCATTTGAGGTCAGGAGTTTGAGACAAGCTTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCGCACGCCTATAGTCCCAGGTTTTCAGGAGGCTTAGGTAGGAGAATCCCTTGAACCCAGGAGGTGCAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGAAGGAATTATTCCTCAGGATTTGGGTCTAATTTGCCCTGAGCACCAACTCCTGAGTTCAACTACCATGGCTAGACACACCTTAACATTTTCTAGAATCCACCAGCTTTAGTGGAGTCTGTCTAATCATGAGTATTGGAATAGGATCTGGGGGCAGTGAGGGGGTGGCAGCCACGTGTGGCAGAGAAAAGCACACAAGGAAAGAGCACCCAGGACTGTCATATGGAAGAAAGACAGGACTGCAACTCACCCTTCACAAAATGAGGACCAGACACAGCTGATGGTATGAGTTGATGCAGGTGTGTGGAGCCTCAACATCCTGCTCCCCTCCTACTACACATGGTTAAGGCCTGTTGCTCTGTCTCCAG
Seq C2 exon
GTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704-HFE:NM_139004:1
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0012913=MHC_I=PU(11.9=46.2)
A:
NA
C2:
PF0012913=MHC_I=PU(89.8=98.9),PF0765410=C1-set=PU(9.6=9.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)