HsaINT0115702 @ hg38
Intron Retention
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113628917-113629785:-
Coord C1 exon
chr10:113629588-113629785
Coord A exon
chr10:113629022-113629587
Coord C2 exon
chr10:113628917-113629021
Length
566 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
TTGTGGTTTTTCTTTTGTAGCTG
3' ss Score
10.02
Exon sequences
Seq C1 exon
GTTGAATATAAGAAAGGCTTTGAAGAGAGTAAGACCCGGTTTCACCTGCCCATGGATATGGTAAACATCAGGCATGCTAAGAAGGCCCAAACTCTCGCCAGTGACCTGGACTACAGGAAGAAACTGCATGAATACACTGTGCTGCCTGAAGATATGAAGACTCAGTGGGCCAAGAAGGCCTATGGGCTCCAGAGCGAG
Seq A exon
GTGAGCCCACACATTATCAGTTCTCTTCATGCATCTCTTGCAGTTGGACATGCTTTCAGAGTGATTTCAAACCTGTGCACGAGTCTATTACATAACTTGGAAGACTAGGAAGAACTGCAGGAAATGTACCAGGGGGCCAGAAAGGGCAGATGGGGAGGTAGAGATATAGTTGACACAATGGAGACTGGAGGGCTCACAGCTAATGCTAAAGTCAAGATGTGTTGGTGATGGGGATGAGCCAAGGAGAAGAAAATGTTTAAAATGGTAAATAAATCTTGGAAATTTAGCAGGTTGGCAAAAAAAAGGCCCTTGGTCAACAAATATGAGAAACACTCTTTTTGCTAAGGTTGCGGTGTCTCAGCAGTAAGGTAGAGCATGCTACTCTTGTTACAAGGTGGGCCCGGTGGCTGTACCTCCCAAGTGGAGATCTGCCTGACCATAAAGGAGCAGGGAGCAGTTCTTCTAGGAAGGCAAATGCAGGATCAAGATCTTCTTAACTCTCCCATCAACTTTGTCCTGTCTCTATCCATGCGCCCAATGAGAGCTTTGTGGTTTTTCTTTTGTAG
Seq C2 exon
CTGCAGTACAAGGCTGACCTGGCATGGATGAAGGGAGTTGGGTGGCTGACAGAGGGGAGTCTCAACTTGGAACAAGCCAAGAAGGCTGGACAGCTGGTCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.057
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=WD(100=40.9),PF0088013=Nebulin=PU(55.2=24.2)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(57.1=45.7)
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:
TAAGAAAGGCTTTGAAGAGAGTAAGA
R:
TTGGCTTGTTCCAAGTTGAGACT
Band lengths:
270-836
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