HsaINT0075834 @ hg19
Intron Retention
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:4886]
Coordinates
chr6:26087509-26093460:+
Coord C1 exon
chr6:26087509-26087744
Coord A exon
chr6:26087745-26093346
Coord C2 exon
chr6:26093347-26093460
Length
5602 bp
Sequences
Splice sites
5' ss Seq
TGCGTGAGT
5' ss Score
7.55
3' ss Seq
ACTTGCTTTTTCTGTTTTAGAGC
3' ss Score
12.58
Exon sequences
Seq C1 exon
CTAAAGTTCTGAAAGACCTGTTGCTTTTCACCAGGAAGTTTTACTGGGCATCTCCTGAGCCTAGGCAATAGCTGTAGGGTGACTTCTGGAGCCATCCCCGTTTCCCCGCCCCCCAAAAGAAGCGGAGATTTAACGGGGACGTGCGGCCAGAGCTGGGGAAATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGC
Seq A exon
GTGAGTCCGAGGGCTGCGGGCGAACTAGGGGCGCGGCGGGGGTGGAAAAATCGAAACTAGCTTTTTCTTTGCGCTTGGGAGTTTGCTAACTTTGGAGGACCTGCTCAACCCTATCCGCAAGCCCCTCTCCCTACTTTCTGCGTCCAGACCCCGTGAGGGAGTGCCTACCACTGAACTGCAGATAGGGGTCCCTCGCCCCAGGACCTGCCCCCTCCCCCGGCTGTCCCGGCTCTGCGGAGTGACTTTTGGAACCGCCCACTCCCTTCCCCCAACTAGAATGCTTTTAAATAAATCTCGTAGTTCCTCACTTGAGCTGAGCTAAGCCTGGGGCTCCTTGAACCTGGAACTCGGGTTTATTTCCAATGTCAGCTGTGCAGTTTTTTCCCCAGTCATCTCCAAACAGGAAGTTCTTCCCTGAGTGCTTGCCGAGAAGGCTGAGCAAACCCACAGCAGGATCCGCACGGGGTTTCCACCTCAGAACGAATGCGTTGGGCGGTGGGGGCGCGAAAGAGTGGCGTTGGGGATCTGAATTCTTCACCATTCCACCCACTTTTGGTGAGACCTGGGGTGGAGGTCTCTAGGGTGGGAGGCTCCTGAGAGAGGCCTACCTCGGGCCTTTCCCCACTCTTGGCAATTGTTCTTTTGCCTGGAAAATTAAGTATATGTTAGTTTTGAACGTTTGAACTGAACAATTCTCTTTTCGGCTAGGCTTTATTGATTTGCAATGTGCTGTGTAATTAAGAGGCCTCTCTACAAAGTACTGATAATGAACATGTAAGCAATGCACTCACTTCTAAGTTACATTCATATCTGATCTTATTTGATTTTCACTAGGCATAGGGAGGTAGGAGCTAATAATACGTTTATTTTACTAGAAGTTAACTGGAATTCAGATTATATAACTCTTTTCAGGTTACAAAGAACATAAATAATCTGGTTTTCTGATGTTATTTCAAGTACTACAGCTGCTTCTAATCTTAGTTGACAGTGATTTTGCCCTGTAGTGTAGCACAGTGTTCTGTGGGTCACACGCCGGCCTCAGCACAGCACTTTGAGTTTTGGTACTACGTGTATCCACATTTTACACATGACAAGAATGAGGCATGGCACGGCCTGCTTCCTGGCAAATTTATTCAATGGTACACTGGGCTTTGGTGGCAGAGCTCATGTCTCCACTTCATAGCTATGATTCTTAAACATCACACTGCATTAGAGGTTGAATAATAAAATTTCATGTTGAGCAGAAATATTCATTGTTTACAAGTGTAAATGAGTCCCAGCCATGTGTTGCACTGTTCAAGCCCCAAGGGAGAGAGCAGGGAAACAAGTCTTTACCCTTTGATATTTTGCATTCTAGTGGGAGAGATGACAATAAGCAAATGAGCAGAAAGATATACAACATCAGGAAATCATGGGTGTTGTGAGAAGCAGAGAAGTCAGGGCAAGTCACTCTGGGGCTGACACTTGAGCAGAGACATGAAGGAAATAAGAATGATATTGACTGGGAGCAGTATTTCCCAGGCAAACTGAGTGGGCCTGGCAAGTTGGATTAAAAAGCGGGTTTTCTCAGCACTACTCATGTGTGTGTGTGTGGGGGGGGGGGGCGGCGTGGGGGTGGGAAGGGGGACTACCATCTGCATGTAGGATGTCTAGCAGTATCCTGTCCTCCCTACTCACTAGGTGCTAGGAGCACTCCCCCAGTCTTGACAACCAAAAATGTCTCTAAACTTTGCCACATGTCACCTAGTAGACAAACTCCTGGTTAAGAAGCTCGGGTTGAAAAAAATAAACAAGTAGTGCTGGGGAGTAGAGGCCAAGAAGTAGGTAATGGGCTCAGAAGAGGAGCCACAAACAAGGTTGTGCAGGCGCCTGTAGGCTGTGGTGTGAATTCTAGCCAAGGAGTAACAGTGATCTGTCACAGGCTTTTAAAAGATTGCTCTGGCTGCTATGTGGAAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTGATCCTAGCTACTCGGGAGGCTGAGGTGGAGGGTATTGCTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGACTGTGCCACTGTACTTCAGCCTAGGTGACAGAGCAAGACCCTGTCTCCCCTGACCCCCTGAAAAAGAGAAGAGTTAAAGTTGACTTTGTTCTTTATTTTAATTTTATTGGCCTGAGCAGTGGGGTAATTGGCAATGCCATTTCTGAGATGGTGAAGGCAGAGGAAAGAGCAGTTTGGGGTAAATCAAGGATCTGCATTTGGACATGTTAAGTTTGAGATTCCAGTCAGGCTTCCAAGTGGTGAGGCCACATAGGCAGTTCAGTGTAAGAATTCAGGACCAAGGCTGGGCACGGTGGCTCACTTCTGTAATCCCAGCACTTTGGTGGCTGAGGCAGGTAGATCATTTGAGGTCAGGAGTTTGAGACAAGCTTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCGCACGCCTATAGTCCCAGGTTTTCAGGAGGCTTAGGTAGGAGAATCCCTTGAACCCAGGAGGTGCAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGAAGGAATTATTCCTCAGGATTTGGGTCTAATTTGCCCTGAGCACCAACTCCTGAGTTCAACTACCATGGCTAGACACACCTTAACATTTTCTAGAATCCACCAGCTTTAGTGGAGTCTGTCTAATCATGAGTATTGGAATAGGATCTGGGGGCAGTGAGGGGGTGGCAGCCACGTGTGGCAGAGAAAAGCACACAAGGAAAGAGCACCCAGGACTGTCATATGGAAGAAAGACAGGACTGCAACTCACCCTTCACAAAATGAGGACCAGACACAGCTGATGGTATGAGTTGATGCAGGTGTGTGGAGCCTCAACATCCTGCTCCCCTCCTACTACACATGGTTAAGGCCTGTTGCTCTGTCTCCAGGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGTCTGAGGTCTTGTGGGAGCAGGGAAGAGGGAAGGAATTTGCTTCCTGAGATCATTTGGTCCTTGGGGATGGTGGAAATAGGGACCTATTCCTTTGGTTGCAGTTAACAAGGCTGGGGATTTTTCCAGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGGTATGGTGGAAACACACTTCTGCCCCTATACTCTAGTGGCAGAGTGGAGGAGGTTGCAGGGCACGGAATCCCTGGTTGGAGTTTCAGAGGTGGCTGAGGCTGTGTGCCTCTCCAAATTCTGGGAAGGGACTTTCTCAATCCTAGAGTCTCTACCTTATAATTGAGATGTATGAGACAGCCACAAGTCATGGGTTTAATTTCTTTTCTCCATGCATATGGCTCAAAGGGAAGTGTCTATGGCCCTTGCTTTTTATTTAACCAATAATCTTTTGTATATTTATACCTGTTAAAAATTCAGAAATGTCAAGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTAAAAAAATACAAAAATTAGCTGGTCACAGTCATGCGCACCTGTAGTCCCAGCTAATTGGAAGGCTGAGGCAGGAGCATCGCTTGAACCTGGGAAGCGGAAGTTGCACTGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATATTTACATGTGAGGAGAACAAGCTGATCTGACTGCTCTCCAAGTGACACTGTGTTAGAGTCCAATCTTAGGACACAAAATGGTGTCTCTCCTGTAGCTTGTTTTTTTCTGAAAAGGGTATTTCCTTCCTCCAACCTATAGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGGTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGGTAATTATGGCAGTGAGATGAGGATCTGCTCTTTGTTAGGGGGTGGGCTGAGGGTGGCAATCAAAGGCTTTAACTTGCTTTTTCTGTTTTAG
Seq C2 exon
AGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704-HFE:NM_139011:1
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
No protein impact description available
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:
PF060247=DUF912=PU(82.2=94.9),PF061436=Baculo_11_kDa=PU(79.5=79.5),PF055456=FixQ=PU(91.4=82.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
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]
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)