HsaINT0075831 @ hg19
Intron Retention
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:4886]
Coordinates
chr6:26093347-26095469:+
Coord C1 exon
chr6:26093347-26093460
Coord A exon
chr6:26093461-26094413
Coord C2 exon
chr6:26094414-26095469
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
GAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704-HFE:NM_139004:4
Average complexity
IR-S
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),PF061436=Baculo_11_kDa=PU(79.5=79.5),PF055456=FixQ=PU(91.4=82.1)
A:
NA
C2:
PF060247=DUF912=PD(15.6=58.3),PF061436=Baculo_11_kDa=PD(17.9=58.3),PF055456=FixQ=PD(5.7=16.7)
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
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)