HsaINT0115726 @ hg38
Intron Retention
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113589666-113590889:-
Coord C1 exon
chr10:113590578-113590889
Coord A exon
chr10:113589798-113590577
Coord C2 exon
chr10:113589666-113589797
Length
780 bp
Sequences
Splice sites
5' ss Seq
GATGTGAGC
5' ss Score
4.72
3' ss Seq
GCTTCCCTCTTACCCTCAAGGTC
3' ss Score
8.09
Exon sequences
Seq C1 exon
TTCCGGTACAAAGAGGCTTTCCTGCGGGACCGAGGCCTGCAGATCGGGTACCGCAGTGTCGACGATGACCCAAGGATGAAGCATTTCCTCAACGTTGGCAGGCTCCAGAGTGACAATGAGTACAAGAAGGACTTTGCCAAGAGTCGGTCCCAGTTTCACAGCAGCACAGACCAGCCCGGCCTCCTTCAGGCCAAGAGGAGCCAGCAGCTGGCCAGTGATGTGCACTACAGGCAGCCCCTGCCCCAGCCCACCTGCGACCCGGAGCAGCTGGGCCTCAGGCATGCTCAGAAGGCCCACCAGCTGCAGAGTGAT
Seq A exon
GTGAGCCACCTCCACCCACTCCCTTGAGGCCCTTCCCCTGGTGCCTCTTCCTAAGAGATGGCCATAATGCCACGTTCCATTGTTAGCTTCTGGGGGAGCTGGGCTGAGAGAGAATCCAAGACACCTAACACTTTAGTGCCAGAAAGAATAACAATAATAACCACCACTTCTCGAGTGTCTCCTGTGGGCCAGGCTCTGTGTCAAATGCTTTCCAAGCCTCCTGCCATTGGCACTTATGCCAACCCCAGGGCTGCTTCATTTTACAGATGAGGAACTTGAGGCTCAGAGAGGTTCAGTGACTTACTCAAGATCCCATAACAAATAAGTGGCAGACCTGGGATACCAACCCCTTTTGGTTTGCTGTGAGGGCCCAAGCTCTCGATGGCTATGCTAAACTGTTTCCAAGGGATCTTAGCTATTAACCCAGCCTTTGCACTTTCTCTGGGAAGAAACTGAAGCCCAGAGAAGGGAAGTGGCTTCCCTAAGGCCACAGAGTGTGTGGAGCAGGTGTCACTACCCCACCCACTCCCAACTGTAACTTTTGTCACTTGAATGGGAAGATGCAAGAGACAGCAACATGCCGGCTGGACTCACAGCACATTGCGGCCCCTGTGCCAGGGAGATGCTGCTTATGATAAATTTGTTCCCCTTGTTCTGGCTTTACTGATGACAGACAACATAGTCTCATACTGTGGCTGCCTTTTTAATCTTCTTTACTTAATGGTCAAACCGCTCCAAACCCTGCTGACATATTCCTCTTGCTTCCCTCTTACCCTCAAG
Seq C2 exon
GTCAAGTATAAATCAGACTTGAACCTGACCAGAGGTGTTGGCTGGACCCCTCCTGGCTCCTACAAAGTGGAAATGGCTCGGCGGGCTGCGGAACTGGCCAACGCAAGGGGCCTGGGTCTCCAGGGAGCTTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:40
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.644 A=NA C2=0.352
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=WD(100=21.2),PF0088013=Nebulin=PU(53.6=14.4)
A:
NA
C2:
PF0088013=Nebulin=PD(39.3=25.0)
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:
TACAAAGAGGCTTTCCTGCGG
R:
CCAACACCTCTGGTCAGGTTC
Band lengths:
347-1127
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