HsaINT0075831 @ hg38
Intron Retention
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:HGNC:4886]
Coordinates
chr6:26093119-26098343:+
Coord C1 exon
chr6:26093119-26093232
Coord A exon
chr6:26093233-26094185
Coord C2 exon
chr6:26094186-26098343
Length
953 bp
Sequences
Splice sites
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
3' ss Seq
TGGGTCTCTTGTCTCCACAGGAG
3' ss Score
11.23
Exon sequences
Seq C1 exon
AGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAA
Seq A exon
GTGAGTAGGAACAAGGGGGAAGTCTCTTAGTACCTCTGCCCCAGGGCACAGTGGGAAGAGGGGCAGAGGGGATCTGGCATCCATGGGAAGCATTTTTCTCATTTATATTCTTTGGGGACACCAGCAGCTCCCTGGGAGACAGAAAATAATGGTTCTCCCCAGAATGAAAGTCTCTAATTCAACAAACATCTTCAGAGCACCTACTATTTTGCAAGAGCTGTTTAAGGTAGTACAGGGGCTTTGAGGTTGAGAAGTCACTGTGGCTATTCTCAGAACCCAAATCTGGTAGGGAATGAAATTGATAGCAAGTAAATGTAGTTAAAGAAGACCCCATGAGGTCCTAAAGCAGGCAGGAAGCAAATGCTTAGGGTGTCAAAGGAAAGAATGATCACATTCAGCTGGGGATCAAGATAGCCTTCTGGATCTTGAAGGAGAAGCTGGATTCCATTAGGTGAGGTTGAAGATGATGGGAGGTCTACACAGACGGAGCAACCATGCCAAGTAGGAGAGTATAAGGCATACTGGGAGATTAGAAATAATTACTGTACCTTAACCCTGAGTTTGCGTAGCTATCACTCACCAATTATGCATTTCTACCCCCTGAACATCTGTGGTGTAGGGAAAAGAGAATCAGAAAGAAGCCAGCTCATACAGAGTCCAAGGGTCTTTTGGGATATTGGGTTATGATCACTGGGGTGTCATTGAAGGATCCTAAGAAAGGAGGACCACGATCTCCCTTATATGGTGAATGTGTTGTTAAGAAGTTAGATGAGAGGTGAGGAGACCAGTTAGAAAGCCAATAAGCATTTCCAGATGAGAGATAATGGTTCTTGAAATCCAATAGTGCCCAGGTCTAAATTGAGATGGGTGAATGAGGAAAATAAGGAAGAGAGAAGAGGCAAGATGGTGCCTAGGTTTGTGATGCCTCTTTCCTGGGTCTCTTGTCTCCACAG
Seq C2 exon
GAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGATGGCTCTTCTCTTGTCTCATTGTGTTTCTTCTGAGTGAGCTTGAATCACATGAAGGGGAACAGCAGAAAACAACCAACTGATCCTCAGCTGTCATGTTTCCTTTAAAAGTCCCTGAAGGAAGGTCCTGGAATGTGACTCCCTTGCTCCTCTGTTGCTCTCTTTGGCATTCATTTCTTTGGACCCTACGCAAGGACTGTAATTGGTGGGGACAGCTAGTGGCCCTGCTGGGCTTCACACACGGTGTCCTCCCTAGGCCAGTGCCTCTGGAGTCAGAACTCTGGTGGTATTTCCCTCAATGAAGTGGAGTAAGCTCTCTCATTTTGAGATGGTATAATGGAAGCCACCAAGTGGCTTAGAGGATGCCCAGGTCCTTCCATGGAGCCACTGGGGTTCCGGTGCACATTAAAAAAAAAATCTAACCAGGACATTCAGGAATTGCTAGATTCTGGGAAATCAGTTCACCATGTTCAAAAGAGTCTTTTTTTTTTTTTTGAGACTCTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCCTGCCCAGCCGTCAAAAGAGTCTTAATATATATATCCAGATGGCATGTGTTTACTTTATGTTACTACATGCACTTGGCTGCATAAATGTGGTACAAGCATTCTGTCTTGAAGGGCAGGTGCTTCAGGATACCATATACAGCTCAGAAGTTTCTTCTTTAGGCATTAAATTTTAGCAAAGATATCTCATCTCTTCTTTTAAACCATTTTCTTTTTTTGTGGTTAGAAAAGTTATGTAGAAAAAAGTAAATGTGATTTACGCTCATTGTAGAAAAGCTATAAAATGAATACAATTAAAGCTGTTATTTAATTAGCCAGTGAAAAACTATTAACAACTTGTCTATTACCTGTTAGTATTATTGTTGCATTAAAAATGCATATACTTTAATAAATGTATATTGTATTGTATACTGCATGATTTTATTGAAGTTCTTGTTCATCTTGTGTATATACTTAATCGCTTTGTCATTTTGGAGACATTTATTTTGCTTCTAATTTCTTTACATTTTGTCTTACGGAATATTTTCATTCAACTGTGGTAGCCGAATTAATCGTGTTTCTTCACTCTAGGGACATTGTCGTCTAAGTTGTAAGACATTGGTTATTTTACCAGCAAACCATTCTGAAAGCATATGACAAATTATTTCTCTCTTAATATCTTACTATACTGAAAGCAGACTGCTATAAGGCTTCACTTACTCTTCTACCTCATAAGGAATATGTTACAATTAATTTATTAGGTAAGCATTTGTTTTATATTGGTTTTATTTCACCTGGGCTGAGATTTCAAGAAACACCCCAGTCTTCACAGTAACACATTTCACTAACACATTTACTAAACATCAGCAACTGTGGCCTGTTAATTTTTTTAATAGAAATTTTAAGTCCTCATTTTCTTTCGGTGTTTTTTAAGCTTAATTTTTCTGGCTTTATTCATAAATTCTTAAGGTCAACTACATTTGAAAAATCAAAGACCTGCATTTTAAATTCTTATTCACCTCTGGCAAAACCATTCACAAACCATGGTAGTAAAGAGAAGGGTGACACCTGGTGGCCATAGGTAAATGTACCACGGTGGTCCGGTGACCAGAGATGCAGCGCTGAGGGTTTTCCTGAAGGTAAAGGAATAAAGAATGGGTGGAGGGGCGTGCACTGGAAATCACTTGTAGAGAAAAGCCCCTGAAAATTTGAGAAAACAAACAAGAAACTACTTACCAGCTATTTGAATTGCTGGAATCACAGGCCATTGCTGAGCTGCCTGAACTGGGAACACAACAGAAGGAAAACAAACCACTCTGATAATCATTGAGTCAAGTACAGCAGGTGATTGAGGACTGCTGAGAGGTACAGGCCAAAATTCTTATGTTGTATTATAATAATGTCATCTTATAATACTGTCAGTATTTTATAAAACATTCTTCACAAACTCACACACATTTAAAAACAAAACACTGTCTCTAAAATCCCCAAATTTTTCATAAACTCAGTTTTAAACTAACTTTTTTTCAAACCACAATCTGATTTAACAATGACTATCATTTAAATATTTCTGACTTTCAAATTAAAGATTTTCACATGCAGGCTGATATTTGTAATTGTGATTCTCTCTGTAGGCTTTGGGTATAATGTGTTCTTTTCCTTTTTTGCATCAGCGATTAACTTCTACACTCTAACATGTAGAATGTTACTACAATATTAAAGTATTTTGTATGACAATTTTATTTGAAAGCCTAGGATGCGTTGACATCCTGCATGCATTTATTACTTGATATGCATGCATTCTGGTATCTCAAGCATTCTATTTCTGAGTAATTGTTTAAGGTGTAGAAGAGATAGATATGGTGGATTTGGAGTTGATACTTATATATTTTCTATTTCTTGGATGGATGAATTTGTACATTAAAAGTTTTCCATGGCAGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704:ENST00000357618:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF060247=DUF912=PU(82.2=94.9)
A:
NA
C2:
PF060247=DUF912=PD(11.3=50.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
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:
CGTCTGGCACCCTAGTCATTG
R:
CGGCATGCAGGAACTCAGAAA
Band lengths:
345-1298
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