HsaINT0072945 @ hg38
Intron Retention
Gene
ENSG00000148180 | GSN
Description
gelsolin [Source:HGNC Symbol;Acc:HGNC:4620]
Coordinates
chr9:121299793-121302167:+
Coord C1 exon
chr9:121299793-121300005
Coord A exon
chr9:121300006-121301962
Coord C2 exon
chr9:121301963-121302167
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
GGGCGGCTACTTAAGGTCGGCGACCCGAGGCCGCGGCTGCCGACTGGGTCCCCTGCCGCTGTCGCCACCATGGCTCCGCACCGCCCCGCGCCCGCGCTGCTTTGCGCGCTGTCCCTGGCGCTGTGCGCGCTGTCGCTGCCCGTCCGCGCGGCCACTGCGTCGCGGGGGGCGTCCCAGGCGGGGGCGCCCCAGGGGCGGGTGCCCGAGGCGCGG
Seq A exon
GTGAGTGCCCGGGGGGCCCCGGGGCTCCCGGAGTAACTCTCTATTGTAAGTTCTTGCAGATACAGCGCTAGGAAAAGGGGAGTAATTCAGGTCTAGAATGGAAAAACTGTTTTGTTGCTTTGTAAGTATCTCTTGCTGCTTCCGGGGCTCTGGCTCGCAGACGAGGGTGGGAGCCTCGGGGCCCTGGCTGTTCCTTCCCAGGAAGCTAACCTCACCTTGGCCGGATTTCTTTTCCCCTGTCCTCCTCTAACATCTTACCTCCTGTCTCCTGAATTCTCCTTTTCCTTCTCTGATTTTTTCTCCCCTCTGCCTCACTTCTCTCCTTCTCTCTTCTGATGTCTTCTTCCATTTACGATTCCTTGTTCTCATTTGATCTCTCTCCTTCTCCAATATTTCCTTCTTTCTTGTATGACCTCGCCTGTCTGCTTATGGTCATTATTATCATTTCTTCTCTCCTTTCTGCTGTCTTCCCTGCCCTGTCTGGTTTCGTGTTTTTCCACCCTTCTGCCTGAGTTCTCCCCACCTTGTTTCTCTGACTTCTCTCCTCTGATTTTTACTCCCACCAGATCTCTTCTCCGGCCAGAGGTGACCTGCACCTGCTGATTTTTGTCCTCGACTCCAGCCTAACCCTCCTGCACCCTCCCCGGCCCCAGCCCCAGTGCATGTGTAATAGCCTCCCCATTTTTAACCACTTCATCTCCAACAGCCTCCTGCAGACCCTGGTGCATCCTCTTCTCCTCTTCCAAGAAATGAAATTTGGGGGTGGTGTGTTGTGGGGCAGGAGGGAGGAGGCAGACAGCGCAGGAGGCCACTTGGACTCAGCCATTTGGACCCTTCTTGGGGGTATGATGGGGATGGGTACAGAGAGGAGAGGGGGCTCCTGTGGATCACAGGAGGCTCAGGTGGGCTCACCTCGATTTGCGAGTGCACCCACTTAGCGTGCACAGAGCTAGCGCCTGCTGTCTGCCAGGCCCCGTGCTGGAAATCTTTCCACTTCCAAAGAGCAAAAGCAAACAGGCTGTGTGACCTTCGGTCAGTCCCCTCCCCTCTTTGAGCCTCAGTTTCTCTGTCTGCAGATTGGGGTTGGATAATGAGCTCTCAGAGGGCCCTTTGGTTTCAAGAGCCATTGAAGATGCTGGAAGGAAGCAAGCTGAGGCCCTGGGGACCCTTAGATTTACTATTGCCATCTGAGGGGTCTACCCATCATCCCAGAGCTTGTGATCTTGGAGCCTGGGGCAACCCCTGCTACACTGTTTCCTAGCTGGAGGTCCCTGGCAGAGTCCCTTCATCTCTCTGTGCCTCGGTTATCACATCCAATTGGCAATAAGAAAAGAAGGGAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAATTAGCCAGGCATAGTATCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGTCGAGATTGCACCATTGCACTCCAGACTGGACAACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAGAAAGAAAAGAAAGGAGCAGGGAGGTAGAGCCCTCTGTACCCTCCATCACCAGAAAAAGCTGAAGAGGGGCTGAGTAGGAGGGACAGATGCTGGCCAGGGCACAGGTTTTGAAGCATAAAACTCTTGCCCTGTTTGCTGACTCGTTGAGACAGGGTGCCCAGAAGGGGATAGACTTCCCTGGGGCGTGGGGAGAGCAGGAGGCTCAAGTGAGATGCTCTTGGTGCTAGAAACCGCCCTCCCTCATGCCTGGGGTCTCTCCCTGCCAGGACCCTGCCCCGCTTAGGCTCTGCCCTGTCTCATCCCAG
Seq C2 exon
CCCAACAGCATGGTGGTGGAACACCCCGAGTTCCTCAAGGCAGGGAAGGAGCCTGGCCTGCAGATCTGGCGTGTGGAGAAGTTCGATCTGGTGCCCGTGCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACAGTGCAGCTGAGGAACGGAAATCTGCAGTATGACCTCCACTACTGGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148180:ENST00000373818:1
Average complexity
IR
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=60.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTACTTAAGGTCGGCGAC
R:
GTCGCCCGTGAAGAAGTCTC
Band lengths:
344-2301
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