HsaINT1025376 @ hg38
Intron Retention
Gene
ENSG00000073969 | NSF
Description
N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Source:HGNC Symbol;Acc:HGNC:8016]
Coordinates
chr17:46626613-46630450:+
Coord C1 exon
chr17:46626613-46626712
Coord A exon
chr17:46626713-46630410
Coord C2 exon
chr17:46630411-46630450
Length
3698 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACT
5' ss Score
8.63
3' ss Seq
TCTTTTTTTCTCCTTTACAGAGA
3' ss Score
11.78
Exon sequences
Seq C1 exon
GCATGTGATTGTGAGGACCTCTCCCAATCACAGGTACACATTTACACTGAAGACACATCCATCGGTGGTTCCAGGGAGCATTGCATTCAGTTTACCTCAG
Seq A exon
GTAACTCAGATGTTAATTTGTTCTCTTCTGTTTTTGAAAGTCATAGAATATGAATAATCTGTTCATTTTAAGCAAGCATCACCCTGTGACTGTATTGATTCATATTGAAGAAAAATATCTAAGTATTATATAAGGAATTTAAAGATACAGTCTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTAAGACAGGGTCTCGTTCTGAGACCCAGGCTGGAGTGCAGTGGCACGATCATGGCTCCTGGTCTCAAGCAATTCTCATACCTCAGTCTCCCGAGTAGCTGAGACTACAGTCTTGTACCACTGTGCCTGACTAATTTTAAAATTTTTTGTAGGGATGGTGTCTTAACTGTGTTGCCCAAGCTGGTCTTTAACTCTTGGGCTCAAGTAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTATAGGGTGTGAATCATCATGCCCAACCTAAAGACAGATTCTTAATTGCCAGTTTTTGCTATGGCTGCCTTCTTTTGGCTTGATTTTTTTTCCCTAATTTTTAAAGATTTTGCAGTAAAATCAGTCAGCTATCACATAAAGCGTCAAGTTATTTTAATGTTAACTGCCAGGGTAATAGAAAAGTAGAAAACATTTTATTTGTGAAGTTGATATCTAAGAATGGTGATTTTATAATGTGATGGCGTTATACTAAAGAATTTGGAAAGAGTCTCAAATTACAACATAATTTGCTAGGCTCCCATAACAACTGGATGGGTTGTGATTACAGTTACAACTGTTGATGGATTCTGTAGAATCCAGAGAATTAGATTGCTTAGTGCTGTCCCAGGCACATCATACATAATATAAAGCACCAAGAATACTAGTCTGTATCCTCTTCTCCCTTATCATTTTACTCAGGCTGCTGACTGTCCCCAGTCCTAAGTAATGTAAATGGAATTCCTACCTCCTCCTAGTATGCTAATGAGCATTGGTTGACTTCCCTGAAGGTTTAGAGAAAGAGATCAAACACTCATTTAAGAACTATTAGGCTGGGTGCAATGACTCATGCTGGTAATCCCAGCACTTTGGGAGGCCAAAGCTGGTGGATCACTTGAGTCCAGGAGTTCAAGACCAGTGGGCAACGTGGCGAAACCCCACCTCTACTAAAAATATAAAAATTAGCTGAGTGTGGTGGTGCATGCCTGTAGTCCTAACTTCTTGAGGGGCTGAGGCAGGAGGATCACTTGAGCCCGGGAAGTTGAGGCTGCAGTGAGGCGAGATAGTGCCACTGTACTCTAGCCTAGGTGACAAAGTGAGACCCTGTTTAAAAAAGAAAAAAACAAAAACAAAAACTATTAGATGGGCCAGGTACCTCACGCTTGTAATCCTAGTGCTTTGGGAGGTGGAGGAGGATCGCTTGAGACCAAGAATTCCAGATCAGCATAGCGAGACCCTTGTCCCCCGCACTAGTCTCTACAAAAAAAAAATTTTTTTTAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCAGGCTACCTGGGAGGCTGAGGTTGGGAGGATCACTTGAGCCTAGGAAGTCGAGGCTGTAGTGAGCTATGATTGTGCCACCATGCTCCAGCCTTTGCTCCAGAGTGAGATTCTGTCTCTTAAAAAAAAGGGAAAAAAAAGGAACTATTGAAGATCTCTTGAAGCCCTCAAAAATTACAGGAAATTTTCACTTACTATTCCACCTGTCTGTTTGATGCCTCTTCATTATCCAGACCACTTTCACGTTTGTTTCTATAGATTAAAAGTTTGGGATATTCCAGGGTTCTCCAGCTTTTACAGAGTTCCATTTGGGATTCTGATTGTTAGCAATAGCTTGAGGTGTGACAGTTTCTCCTTGTCTCTGTTTTGTAAAAAAAAAAAAAAAAATTTCCCCGACATTCACTGTAGGCCAGCCTCTATTCTAGGTACTTTGGCATGTGTTAGCTCATTTAATTCTCCAAACAACCTTATACAATAGCTACTGTTGTTATCCCTAAGGACTGTTGTATTAGTCCATTTTCATACTGCTATGAAGAAATTCTGGAGACTGGATAATTTATAAGGAAAAATGAGATTTCATGGACTCACAGTTCCACATGGCTGCAGAGGCCTCACAATCATGGTGGAAGGCGAAGGAGGAGCAAAGTCATGTCTTACATGGCGGCAGACAAGAGAGCGTGTGCAGGGGAACTGCCCTTTATAAAACCATCAGATCTTCTGAGACTTACTCACTATCATGAAAACAGCATGGGAAAACCCACACCCATGATTCAGTTACCTCCCACTGGGTCTCTCCCATAACACATAGGGATTATGGAAACTACAATTTAAGATGAGATTTGGGTGGGGGCAAAGCCAAACCATATCAGCTGTCTTTGGGATTGAAGTACAGAACCTAAATGTGGCTTCCTTGTGACTTAAAGTCTAAGCTTAACGAGCATGGTGCTAAATTTCAGGTTGGCCAGAAGTGGGATGGGGTTTTACAGAAGAGGTCTTCTGGGGGAGGTGAAGGGCAGAGTGGAGGGAAACAGGATGTGGTAAGAAAGCCACAAGGGAGAGCACTTGTTGCACATATTCACAGTTCAGTGTCTTCTAAATTACCCGCCACAAAGTCTGCAGTGTTTGGATGGGCAGGTGAACTACTGATTTTCAACCAAAAATTGTTTTTCTCATTGTTCTTTGGAGTGTTATCAGTAATTACTAATTTTGAATCTATACCAAGCAAACCCCAGATTCCTGCCTAAACACAATCTGGCCTGCCTTCATACTTCTTGCCATTGTAAACAGTAGGGATTTGGGAAAGCCTGAAATCTAGCTGTAAATGTCTAAAAATCTTCTGGCTAGTATACAAAGAGTAGCCATGACCATCTAATGATTTCAGTCCCTGACTGGGTTTCAAAATAGATTTTCTGACCAGTTTTAATTTAGTCTTCATGAATTGAATGTCTTCCTTTTTGAGATACTGTAACAAACAGTAAAACTAACTGCAGCAGTACATTTAGAACACTGAAGTGTGATCTGATACAGTGAAGACCTTCTGTAGCATCATATTGTGCAAAGGAACATCCTCCTCAGTGGTGCCAGCTTTACTGCAAAAGGCAAGCTTTGCACGTTTTGAAACAGATGTTCAGATGTAAACTGTAGCACATGCTTTACTTTCCTAGGGTAAGTAACAAAGAACCATTACTGGGTAGCTTAAAACAACAGAGATTTATTCTGTCACCGTTGTGGAGGCCGGAAGTCTGAAATCAAGGTGTCAGTAGAGCTATTCCCTCTCTGAAGGCTCTAGGGAAGAACCTGTTCTGTGCTTAGCTTCTGGTGTTGCCGGCAATCCTTTGGTGTTCCTTGGCTGTAGCTGCATCATTTCAATTTCTGCCTCTGCTATCACATGATGGCATTCTGTCTGTGTGTCTATGTCTCTTTCTTAGAAGGACACCAGTCATATCGGCTTAGGGTTCACCCTAATTCATTATGACCTCATGTTAACTTGATACATTTGCAGAGATTGTATTTCTAAATAAAGTCACATCCACAGGTGTTGGGGGCTAAGACTTCAACATACTTTGGAGGGGGAGAGCACAGTTCAACCATAATAGCATACCATGTTTTGATCTTTGAGTGTATTCCTAAAATTCATTAAAATTCCTCTTTTTCTCTTGTCTAATTTTGATGGCTTTGGTTTTAAGTATCTTTTTTTCTCCTTTACAG
Seq C2 exon
AGAAAATGGGCTGGGCTTTCTATTGGGCAAGAAATAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000073969:ENST00000398238:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0235913=CDC48_N=PD(34.9=83.3)
A:
NA
C2:
PF0235913=CDC48_N=FE(15.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains