HsaEX0029855 @ hg38
Exon Skipping
Gene
ENSG00000010704 | HFE
Description
hemochromatosis [Source:HGNC Symbol;Acc:HGNC:4886]
Coordinates
chr6:26093119-26094553:+
Coord C1 exon
chr6:26093119-26093232
Coord A exon
chr6:26094186-26094218
Coord C2 exon
chr6:26094404-26094553
Length
33 bp
Sequences
Splice sites
3' ss Seq
TGGGTCTCTTGTCTCCACAGGAG
3' ss Score
11.23
5' ss Seq
AACGTGAGT
5' ss Score
9.54
Exon sequences
Seq C1 exon
AGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAA
Seq A exon
GAGGAGCCATGGGGCACTACGTCTTAGCTGAAC
Seq C2 exon
GTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010704-'9-10,'9-9,10-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF060247=DUF912=PU(82.2=94.9)
A:
PF060247=DUF912=PD(15.6=58.3)
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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:
TGGCACCCTAGTCATTGGAGT
R:
CGGCATGCAGGAACTCAGAAA
Band lengths:
123-156
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development