HsaINT0072945 @ hg19
Intron Retention
Gene
ENSG00000148180 | GSN
Description
gelsolin [Source:HGNC Symbol;Acc:4620]
Coordinates
chr9:124062079-124064445:+
Coord C1 exon
chr9:124062079-124062283
Coord A exon
chr9:124062284-124064240
Coord C2 exon
chr9:124064241-124064445
Length
1957 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
3' ss Seq
TCTGCCCTGTCTCATCCCAGCCC
3' ss Score
8.26
Exon sequences
Seq C1 exon
ACTTAAGGTCGGCGACCCGAGGCCGCGGCTGCCGACTGGGTCCCCTGCCGCTGTCGCCACCATGGCTCCGCACCGCCCCGCGCCCGCGCTGCTTTGCGCGCTGTCCCTGGCGCTGTGCGCGCTGTCGCTGCCCGTCCGCGCGGCCACTGCGTCGCGGGGGGCGTCCCAGGCGGGGGCGCCCCAGGGGCGGGTGCCCGAGGCGCGG
Seq A exon
GTGAGTGCCCGGGGGGCCCCGGGGCTCCCGGAGTAACTCTCTATTGTAAGTTCTTGCAGATACAGCGCTAGGAAAAGGGGAGTAATTCAGGTCTAGAATGGAAAAACTGTTTTGTTGCTTTGTAAGTATCTCTTGCTGCTTCCGGGGCTCTGGCTCGCAGACGAGGGTGGGAGCCTCGGGGCCCTGGCTGTTCCTTCCCAGGAAGCTAACCTCACCTTGGCCGGATTTCTTTTCCCCTGTCCTCCTCTAACATCTTACCTCCTGTCTCCTGAATTCTCCTTTTCCTTCTCTGATTTTTTCTCCCCTCTGCCTCACTTCTCTCCTTCTCTCTTCTGATGTCTTCTTCCATTTACGATTCCTTGTTCTCATTTGATCTCTCTCCTTCTCCAATATTTCCTTCTTTCTTGTATGACCTCGCCTGTCTGCTTATGGTCATTATTATCATTTCTTCTCTCCTTTCTGCTGTCTTCCCTGCCCTGTCTGGTTTCGTGTTTTTCCACCCTTCTGCCTGAGTTCTCCCCACCTTGTTTCTCTGACTTCTCTCCTCTGATTTTTACTCCCACCAGATCTCTTCTCCGGCCAGAGGTGACCTGCACCTGCTGATTTTTGTCCTCGACTCCAGCCTAACCCTCCTGCACCCTCCCCGGCCCCAGCCCCAGTGCATGTGTAATAGCCTCCCCATTTTTAACCACTTCATCTCCAACAGCCTCCTGCAGACCCTGGTGCATCCTCTTCTCCTCTTCCAAGAAATGAAATTTGGGGGTGGTGTGTTGTGGGGCAGGAGGGAGGAGGCAGACAGCGCAGGAGGCCACTTGGACTCAGCCATTTGGACCCTTCTTGGGGGTATGATGGGGATGGGTACAGAGAGGAGAGGGGGCTCCTGTGGATCACAGGAGGCTCAGGTGGGCTCACCTCGATTTGCGAGTGCACCCACTTAGCGTGCACAGAGCTAGCGCCTGCTGTCTGCCAGGCCCCGTGCTGGAAATCTTTCCACTTCCAAAGAGCAAAAGCAAACAGGCTGTGTGACCTTCGGTCAGTCCCCTCCCCTCTTTGAGCCTCAGTTTCTCTGTCTGCAGATTGGGGTTGGATAATGAGCTCTCAGAGGGCCCTTTGGTTTCAAGAGCCATTGAAGATGCTGGAAGGAAGCAAGCTGAGGCCCTGGGGACCCTTAGATTTACTATTGCCATCTGAGGGGTCTACCCATCATCCCAGAGCTTGTGATCTTGGAGCCTGGGGCAACCCCTGCTACACTGTTTCCTAGCTGGAGGTCCCTGGCAGAGTCCCTTCATCTCTCTGTGCCTCGGTTATCACATCCAATTGGCAATAAGAAAAGAAGGGAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAATTAGCCAGGCATAGTATCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGTCGAGATTGCACCATTGCACTCCAGACTGGACAACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAGAAAGAAAAGAAAGGAGCAGGGAGGTAGAGCCCTCTGTACCCTCCATCACCAGAAAAAGCTGAAGAGGGGCTGAGTAGGAGGGACAGATGCTGGCCAGGGCACAGGTTTTGAAGCATAAAACTCTTGCCCTGTTTGCTGACTCGTTGAGACAGGGTGCCCAGAAGGGGATAGACTTCCCTGGGGCGTGGGGAGAGCAGGAGGCTCAAGTGAGATGCTCTTGGTGCTAGAAACCGCCCTCCCTCATGCCTGGGGTCTCTCCCTGCCAGGACCCTGCCCCGCTTAGGCTCTGCCCTGTCTCATCCCAG
Seq C2 exon
CCCAACAGCATGGTGGTGGAACACCCCGAGTTCCTCAAGGCAGGGAAGGAGCCTGGCCTGCAGATCTGGCGTGTGGAGAAGTTCGATCTGGTGCCCGTGCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACAGTGCAGCTGAGGAACGGAAATCTGCAGTATGACCTCCACTACTGGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148180-GSN:NM_000177:1
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=0.354 A=NA C2=0.005
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0062617=Gelsolin=PU(50.0=63.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTTGCGCGCTGTCCCTG
R:
AGTAGTGGAGGTCATACTGCAGA
Band lengths:
313-2270
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
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)