HsaINT0148472 @ hg19
Intron Retention
Gene
ENSG00000174938 | SEZ6L2
Description
seizure related 6 homolog (mouse)-like 2 [Source:HGNC Symbol;Acc:30844]
Coordinates
chr16:29896907-29899138:-
Coord C1 exon
chr16:29898970-29899138
Coord A exon
chr16:29897071-29898969
Coord C2 exon
chr16:29896907-29897070
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-SEZ6L2:NM_201575:7
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.099 A=NA C2=0.143
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
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
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)