HsaINT0148472 @ hg38
Intron Retention
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Coordinates
chr16:29885586-29887817:-
Coord C1 exon
chr16:29887649-29887817
Coord A exon
chr16:29885750-29887648
Coord C2 exon
chr16:29885586-29885749
Length
1899 bp
Sequences
Splice sites
5' ss Seq
CCGGTAAGG
5' ss Score
10.19
3' ss Seq
CACGTTTCTGTCCATCCCAGGCT
3' ss Score
8.55
Exon sequences
Seq C1 exon
CATCCTGTGGTGGCACCATCCACAATGCCACCCTGGGCCGCATCGTGTCCCCAGAGCCTGGGGGAGCCGTAGGGCCCAACCTCACCTGCCGTTGGGTCATTGAAGCAGCTGAGGGGCGCCGGCTGCACCTGCACTTTGAAAGGGTCTCGCTGGATGAGGACAATGACCG
Seq A exon
GTAAGGGTCTGGGTCTTGGGTCAGAAGTCCCCACCTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAAGCAGGCGGATCACAAGGTCAGGAGATCGAGTCCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCATCCTGGGAGACAGAATGAGACTCCGTCTCAAAAAAAAAAAAAGAAGTCCCCACCTCAGGGAAGTAGGGAGGCTAAGTGGGGACTTGGACACAGCTGGGGTGGATCCTGGTTGAGATATGCATCACAGCTTAGTCCTAAGCCTTTTTTTTTTTTTTTTTCTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGCCGCAGTCTTGGCTTACCGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGATTAGTTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGCATTTTTAGTAGAGATGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACACCCAGCCAGTCCTAAGACTTTCTTAGGAAGTGTAGCTGTGAAACCTTAGACAAATCACTTAACTTCTTTGTGCCTCAGTTTCCTCATCTGTAGAATGGAGATAACAATACTTCCCTCTTCAGGTTTCTGTGAGGATAAGTGCTGAAATTATATAAAGTCCTTAGAATGGCACCTGGGACAATAAGCACTATAAAAGTGTCTGCTATCCTCTTTTTTTTTTTTTTTTAAGATGGAGTCTCACCCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAACCTCTGTCTCCCAGGCTCAAGCTATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACAAGCGTGTGCCACCACGTCCGGCTAATTTTTTGTACTTTTTTTTTTAGTAGAGTTGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAACCACTGCACCTGGCCTTATTTATCTATTTATTTATTTTTGGAGACAGACTTTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGGATTCAGCTCACTGCAACCTCCACCTCCCAGATGCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAAACATGGGGTTTTACCATGTTGGCCAGCCTGGTCTTGAACTCCTTGACTTCAGGTGATCCACCCGTCTTGGCTTCCCAAAGTGCTGGGATGACAGGTGTGAGCTGAGCCACCATGCCTGGTCAAGCATCTGCTATCTTCATCATCATTATCATCCTTTACCTAGCAACTTGGTATCTCAGCCCTGCCACTACTTGCTCTGTGACCTTGGACAGGTTACTTGATCTTTCTATGCCCTAATATCCTCATCTATAAAATAAAGGATAATAATAGTGTCTGACTCAAGAGTTCTTGTGAAAATTAAATGAGATAGAATGTGTAAGGGCTTAGAAGAGTGCGTGGCATATAGTTATGTGTGATGATAACAGCTATAAAAATAAGTTAGGAAAGCAGGCAAGGGGTGAGGCAGCTTGTGAGGGAGATTGAGCTCCTGGTCACGTTTCTGTCCATCCCAG
Seq C2 exon
GCTGATGGTGCGCTCAGGGGGCAGCCCCCTATCCCCCGTGATCTATGATTCGGACATGGACGATGTCCCCGAGCGGGGTCTCATCAGTGACGCCCAGTCCCTCTACGTGGAGCTGCTGTCAGAGACACCTGCCAATCCCCTGCTGTTAAGCCTTCGATTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174938:ENST00000350527:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.095 A=NA C2=0.163
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(55.7=94.7)
A:
NA
C2:
PF0043115=CUB=PD(43.3=75.0)
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:
CCATCCACAATGCCACCCTG
R:
CTTCAAATCGAAGGCTTAACAGC
Band lengths:
318-2217
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains