HsaINT0114830 @ hg38
Intron Retention
Gene
ENSG00000148400 | NOTCH1
Description
notch 1 [Source:HGNC Symbol;Acc:HGNC:7881]
Coordinates
chr9:136500552-136501913:-
Coord C1 exon
chr9:136501748-136501913
Coord A exon
chr9:136500848-136501747
Coord C2 exon
chr9:136500552-136500847
Length
900 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGG
5' ss Score
9.68
3' ss Seq
ACCCGTCTCTGCCTCTGCAGATG
3' ss Score
11.67
Exon sequences
Seq C1 exon
TTCGAGGAGCCCGTGGTTCTGCCTGACCTGGACGACCAGACAGACCACCGGCAGTGGACTCAGCAGCACCTGGATGCCGCTGACCTGCGCATGTCTGCCATGGCCCCCACACCGCCCCAGGGTGAGGTTGACGCCGACTGCATGGACGTCAATGTCCGCGGGCCTG
Seq A exon
GTAAGGGTGCCAGCAGCCAGGGCTTCCCTAGCCCCGTGGCCCACCTGCCTCTCTCCCCTAAGCCCCGAGGCTGGGGTACAGTTGATACTCTGGAAACTTAGAATTGGGGGTGAGAGCTTTCATCCTTGGGGTGTTTCCCATTCAGAGTAGACGTGGGGGGGTCCTGGAGTCCTCCTGTTCTTCCACCAACCCCTTCCTGGGGTGATACCGCAGGGCCACTCTGTCCCTGTAAATTACTCTTTTCTGAAACCTTCTTGAGACATGGAAAGCGTTGATTTTCTTTTTCTTTTTTTTTTTCTTTTTTTTTTGTTTTTGAGATGGAGTCTCGCTCCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCCCTGCAACCTCCACCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGCAGCGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCCCAGTGCTAGGATGACAGCGTGAGCCTCCGCATCCTGCTGAAGCATTAATTTTCTAACTGCATGCTTCTGGGGTCCTCTTTTTCCTGGGTGGATTTTGGGTGCCAGGTCTTGGGCAGGTCAGGAAGCAGTTGCCCGCCAGGAGTTTAAGCTGGATTCGGCTCTGTCCACTGAGCAGCCCAGGCGGACTTCAGCTGCCCCTTGGTGGCTGTGTGCACGGGGCCACCAAGTGCTGGGTGGTGCATCCACACCGTGGCCCCTTGAGCTTGGGGCTGCTGCCCCCCTCCCCCTGGGCTGCAGCTGGGGACCGGCCCTCCAGACTGAGCACCCGTCTCTGCCTCTGCAG
Seq C2 exon
ATGGCTTCACCCCGCTCATGATCGCCTCCTGCAGCGGGGGCGGCCTGGAGACGGGCAACAGCGAGGAAGAGGAGGACGCGCCGGCCGTCATCTCCGACTTCATCTACCAGGGCGCCAGCCTGCACAACCAGACAGACCGCACGGGCGAGACCGCCTTGCACCTGGCCGCCCGCTACTCACGCTCTGATGCCGCCAAGCGCCTGCTGGAGGCCAGCGCAGATGCCAACATCCAGGACAACATGGGCCGCACCCCGCTGCATGCGGCTGTGTCTGCCGACGCACAAGGTGTCTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148400:ENST00000277541:30
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.821 A=NA C2=0.424
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF127962=Ank_2=PU(84.3=75.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTCAGCAGCACCTGGATG
R:
GCCCATGTTGTCCTGGATGTT
Band lengths:
355-1255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development