HsaINT0148448 @ hg38
Intron Retention
Gene
ENSG00000100095 | SEZ6L
Description
seizure related 6 homolog like [Source:HGNC Symbol;Acc:HGNC:10763]
Coordinates
chr22:26298984-26306144:+
Coord C1 exon
chr22:26298984-26299169
Coord A exon
chr22:26299170-26305978
Coord C2 exon
chr22:26305979-26306144
Length
6809 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGC
5' ss Score
9.37
3' ss Seq
CCCACCCCTTTCTGGATCAGCTC
3' ss Score
6.5
Exon sequences
Seq C1 exon
CCTTCATGCTGAGCTGCAACTTTCCCCGCCGGCCTGACTCTGGGGATGTCACGGTGATGGACCTGCACTCAGGTGGGGTGGCCCACTTTCACTGCCACCTGGGCTATGAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTCCAAGCCGCACTGGAGCAGCCAGGAGCCCATCTGCTCAG
Seq A exon
GTATGCTCCAGCCTCAGCCGGACCAAACCTGATGGTCCAACTAAGAGGGGAAAGACCAACCTGTAGGACACCGAGAGTGACCTCAGGGAATGGCTTTCAGCCCAGGGGAAGAAACTGCTCCAAATATGGATGACTATTGTTATTTATGTTTTTATTGGAGTAAAATACACATAATATGAAATTTACCATTGGAGACATTTTAGTATGTTCACGCTATTGTGCAACCATCACCACTACCTAGCTCCAAAACATCTTTAACACCCCAAATGGAAACACTGTACAGAAAGCAGTCACTCCCCATCCCTCCCTCCTCCCCACACTCGCTGGCAACCATCCGGCTGCATTCTGTCTCTGTGGATTTATCTATTGTGGATATTTTATGTAAATGGAATCATATAATATGTGACTTTCATGTCTGACTTCTTTCACTTAGCGCTTGGCACTGTGTTTTCAAAGTTCGTGTATGTTGTAGCATGTATCAGTACTTCATTTCTTTTTACAGCTGAATAATATTCCATTGTATGGATGTCCCACATTTTGTTGACCTGTTTATTCGTTAGTAGACATTTGAGTTGTTTCTACTTTTCAGCTATTATGAACAATGCTGCTGTGAACATTTGTATGCCAGTTTTTTGTGTGGATATGGCTTTCATTTCTCTTAGATATATACTCAAGAGTGGAATTGCTGGGTCATAGGGTCATTGTATGTATAACTTTTTGAGGAACCATCAAACGATTTTCCACAGCAGCTGCACCATTTTACTTTCCCCTCAGCAATGTGACAGTACCAGTGTCTCCACATCCTTGCCCACATATGTTCTTTTCCATGTTGTTGTTTTTATTGTAGCCATCCTTATGGGTATGAAGGTATCTCATGGTTTTAGTTTCCATTTCCCTGATGATTAATGATGTCAAGCATCTTTTCATGTATGTGTTGGCCATTTGTAGATCTTCTTTGGGGAGATGTCTAGTCAGGTCCTTTGCCCATTTTTTTTTAATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCATCATTTAACATTAGGTATATCTCCTGATGCTATCCCTCCCCCCTCTCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGACAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATATCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAAACCAGTCTATCATTGTTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCTTATTTCCATTTTTTAATCAGGTTGTTTGTCTTTTTGTTATTGAGTTGTAAGCAATCATTATATATTCTGATCACTAGACCCTTATCAGATAAGTGGTTTGCAAATATTTTCTCCCATTTCATGGGTTGTCTTTTCACTTACTGACAGTGTTATTTGATGCACAAAGCTTTTACATTTGGCAAAATTAAATATTTTTTTCTTTTCTTTCTTGTGCTCTGAGTGTAACTACTGCCATTTTTCAAGCCAAGCCAATATGTGTTGCACACCGTGCCAGAGGCTGCATTTAATCCTCACAGCAATGCCATAGGATGGGAGCCATTATCCCCATTTTGCAGATGAGGCTCATGTAGGTGAAGTCACTTACTCAAAGCCTCCATGTAGAAATTGTTGGAGGTAGCCTGCTGACACAGTCTGGTGCCCTCTAGTAAAAAGAAGTGGGCTTTCTGAGCCAGCAGACAGAATCTGAGACTTCGAGGACAGAAGGAATTTTAAGCACCTGTTGGGCGTTGTTTGTCATTCAGAGCCTTTCCTATCTAGGTACTCATTCGACAAACATCCGCCGAGCGCCCACTGTGTGGTAGGCATTGCACCTGTTGCTAGAGCTATTGCAGGGACCCTGACCCAGTTCCTGCTCTCACAGAGTTTCCAGTCAAGGTGAGGCTGTAGTATGTAAATGAGTAAACAAGGATGCAAACATGCTGGTAACAGATTGTGTTAAGGACCAGGAAAGAAATTCACATGGTGGAATGATGCAGAGTGAGGATGGAGAGGACATCAGTTATTGTGAGAGGCGTTGCAATGCAGAAAAGGTATACAGGAAGAAGCTGTGATAGAGGACCTCACCTGGGAGGAGGACAGTGATGAGCGAAGGGTCAGGGAAGGATTACCTGATAACACTCCAAGATTTGGAAGTTGAGTAGGAAATAGACTGAGGGTGGAAAATGGGGGGGAGAAGGGGGAAACATTCCAGGCAGATGCACTAGCACATGCTAAGGTTCAGAGGTCAGAAGGAACTCGATGAGTTTGAGAAAGCAAATAAATAAATAAGATCAATCTGACTAAACTGCAGAGAAAATATCAGGACAGGAGGCTGGGGCAGTGGTCAGAAACTGTATTGCTCAAGGTCATGAGAAGACAGGTGGACTAGGTAGGAGATATCTGGAAAAATTTAAGCATAAGGGTGATCATTCTGACTTCTATTTGGCAAAAATGATTGAGGATGGTCAGAGTGGATCCATGGAAATCAAGGTGGACAATATCTACTATTTCACTTGAACTCAGGGAGATAAGATTACCACTTTCATAGGCAAAGAGAATGAGGCTTAGAGAGATGAAGTAACATACTTGAAGTGGCGAACTTAGTCCAGATCCCTTCTCTCCTGAGCTCCTCCCCTTACAGCTTCCTTACTCAAAGTGTGGTCCTCGGACTAGCAAAATTATTAGAAATGCATAATCCTGAGCCCCATGCAAAACCAAATGAATCAAAATTTTCACTTTAACATGGCCCTTGGGTGACTCATATGCACATTACACCTGGAGAAGCACTGGTTTGTAACGCACTGTCCCTGCACCAGTGGGCACAGCCTTGGCCATCTTCAGCTATCAAGAGAGCAAAACCCTTTTAGAATTCTCAAAAGTCCTGATGGTGGTTGAGAGAGTATAGGTTGCCCTGCCACCTACTATGTGCCAGGCTATGAGCCATGTGTGAAGAGAATATTGGAACTAATGAGACATAATTCCTGCCCTCCAGTTATTCATAGCCAAGTGGAGCTCAAAAAGGAAATGAGAGCTAATGATAAATTCTGAGATTCAATTGTTACAGTATTGTTCCCCCAAGGCCCTTCAGAATTTTTCTTTCTTTTTTTTAAACAAAGATAAAATTCCAAACCATAGGGCAGTTGGTCTTCACGCCTCTCTCACATTAATTTTTATCTATGTGTGAAATCAGGGAGGAATTAAGCTTCCATTTGTGCTAAGAAAGATGGATGGGGAGCCACGGCTGGCAAATTGAAGCCAAACAGAGCCATCAGTTGGCTTAATCAGGCAAAGAAGGGAAGCAGAGAAGCCGCAAACGATCAGCAGCTTGGGAGGACAGATGGCCAGAGCCCCCCACCAGGGACAGTGTCCTCCATTTCTCAGCTCCTGAGCCACAGGGCAATAGAGCTGGCTATGTTTTGAGTGCCCACTCTGTGCCAGGGATGGCATGAAGCTCCCCATGCCCATCGTTTCATTGATTTCTCACTACTGTCCTATAAGGAGGGTGGACTTATCACCATTTTACAGTGGGTAAACATGTGACTTGTCTTAGATCCACAGCAGATGACTGGCAAGGTTTCAACCTAGGGCTGGCTTATTTCACAGAACAATCTCTCCTCTAGGACAGAAGGGCAGCCTGGAGAGAGAAATGAACCTAGCTTTCTGTCTGTGGTCCTGAAAGAAGTATGGAGCTTCTTGGCAATGTCTTTGCTGTAGGTCACAACACAGTCTGGAGCAGAGATAAGAGTTATCCACCGTTCTCTGCTACTGCAAGCCCCATTCAGTCATACTGTCATTCAACAAACATTTAATGGGTACCTGCTATGTATCAAGCTTTGAGCTGATATTAGAGATACAAAAAGGAAAAAATATTTATTCTTTCATTCAACAAACATTTTATAAAGCAACTACTATATGCCATATACCTTTCTGGATTAGCAGGTTATCATAAATAAGACAGACAGTGGAGTAGTGACTTCGATAAGAGATACTGGAGTGAGGCAGCCTGAGCTTGAGTCTCAACTGCTCCACTTATTATGTGTATGTCCTTGAGGAAGTGGCGTAATACCTTTGAACTTCTTTTTTCCTCTTTTGCAAAATTAATCGTGGTTATTCAGTAAATATTTACTGAGCACATTCTACATACCAGGAGCTCTTCTGGTTGCTGGTAGTGTGACTGAAAGCAAACAAACAAAAAGTAGTCCTAGCTTTTGTGGAACCTACAAACCCCTTAGCCATCTGTGAGATGGTTCCAAATAACCTGTCCCACTTTTGCTTCCTCTCCTATATCTCTGAAAATGAAGGGGGAACCAAGCGTCCTGTGCTTGGGAAGGAAATATTTTTCAAGCTCCTTTGATCCTCATAAAAGATAGAAATGGCTCCCAAGACTTGAAACCCTGGTCATGGTGTAGGGCTTTACTCAATCGTGGCCCTGGGCTATTCTTCACATCCCTTCCTCCTGGACTGACTGCCACGCTCTGTGAGAAGCATCTGCTACCCACCATCTCTCCTCAGAAAATTCAAAACTGGCTGAGTGCTGTGGCTGATGCCTCTAATCCTTACATTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGAGTTTGTCTCAAAAAAAAAAAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGGAAAGAAAATTCAAAACTGTTCTCTCATATAGTACGTGAGAAAACAATTTCCTAAGAACCAAATATCTCCTAAGAATTAGAGTAAAAATAAGAATACCTTCTCGCTTGAGAACTGGAAAGTGTTCTTTCCAGTGCACAAATCACTTTTTAATATTTTTCATTAGATTTTTATGATAAAAGTAATAGATGATTCTGGTAAGAAATTTTTCAAGAAATAGTGAAGTGTAAGAAATAGGAACAAATCACTTTTATATTCATGGTCTCAATTGATTCTTGAAAATAGCTTATTAAAATAGGTATGGCACACTATTTTCTAACTTGCTTTTTTTTTCACTTAAAAAATAGTGAGCATCTTCCTATATGCTGAAGTATTCTTTGAGAACATGGTATTTAGTTTCTGAATGGGTGGAGTGTATTTACAGTTATGCATCACTTAACAATGGGGATATGTTCTAGGAAATGCATCTTTAGATGATGTCATCATTGCGTGAACATCATAGAGTGTATGTACACGAGCCTTGATGGTATAGCCTACTACATACCCAGGCTATATGGTACAGCCTATTGCTTCTCCGCTACAAACCTGTACAGCATGTTACTGTGCTGAACACATTGTAACACAAAGGTATTTGTTTATCTAAACATAGAAAAGATACAATAAAAATATAATATTAAAATCTTATGGGACCACTGCCATATATACACTCTGTTGTAAATTGAAACACTGTTATGTGGCACATGATGTATTTCACTAAACATCTGTGAGTGGACATTCATCTTGGTGTTTTTTTTATTTTTCATTCCTAGAAACAAGATAGCCATGAATATCCTCATTCCTAACTCTTGGTGCAAATCTCTAAATCTTTTCTTATTATAATTATCCAGAACCGCATTTGGCGGATCAAAGTGTTTGAGCACGTTTTCTAGGCTTTTCACTAAATTGCCCTCCCGAAAGGTCATAACAGTTTGCATTCTAACCAGTCATGATGAAAGTGAGCATTTCCCATCACCCTTACCATCTCCAGATTTTATTGCTGCTTTTTATCTTGGCCGATTAGGTGGATGAAAGTAGAATACAGCTTAGATTTGCATTTCATTTGTTATTAGTGAGGCTGAATTTTTAGTGCTTACTGAGTACTAGAAATATATTTCTTCTTTTGTGAACTGCCTGTTTATATCCTTCTTGATTGCCATTTTGTAATTAAAAGTCAGGGCACAGCCAGCACCACAGAACTGTCGTTAAATTGCAGTCATTCCCTACCATGAAATACACATGTTGATGGTTCCAATTGTAGGGTGAAATCTCCTGTCAAACAGGATTCCCTCCCAGGAGAAGTCCCTTCCAAGCTTTCTCTCCCTGCCCGGTTTCCTCCCGCTCCAGGTCTCTGATGTTTCATCCTGGGCAAGGGGCAGGGGTGGGGATCAGGGGAGAATGAAACACTCACTTCCTTCTCTCTCTCTCTCTCTTTCTCTCTGTCTCTCTCCTCTCTCTCTCCCTCTCTGCTCTCTCCCATTGCCCACCCACCCCTTTCTGGATCAG
Seq C2 exon
CTCCTTGTGGAGGGGCAGTGCACAATGCCACCATCGGCCGCGTCCTCTCCCCAAGTTACCCTGAAAACACAAATGGGAGCCAATTCTGCATCTGGACGATTGAAGCTCCAGAGGGCCAGAAGCTGCACCTGCACTTTGAGAGGCTGTTGCTGCATGACAAGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100095:ENST00000404234:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.016 A=NA C2=0.018
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=88.9)
A:
NA
C2:
PF0043115=CUB=PU(49.1=94.6)
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:
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