HsaINT0115730 @ hg38
Intron Retention
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113650037-113650545:-
Coord C1 exon
chr10:113650438-113650545
Coord A exon
chr10:113650142-113650437
Coord C2 exon
chr10:113650037-113650141
Length
296 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGT
5' ss Score
9.11
3' ss Seq
TGTCCTTTGCCTTAAAACAGGTG
3' ss Score
9.59
Exon sequences
Seq C1 exon
GTGAGATACACAGAGGACTATGAACAACAAAGAGGGAAAGGCAGTTTCCCTGCGATGATCACACCCGCCTATCAGATAGCCAAAAGAGCCAATGAGCTGGCAAGTGAT
Seq A exon
GTAAGTGTCCTTGACAATGTGGTCATGTTAGGGAGAAAGAGGAATGTGAACCTGGGTCTGAGGAGTCCAACTTCCTGTTGACTTTTGCATTTACCCTGAAGCCAGGGAGTAGTTTTCCTTTATAGTTTTAAGTCAATTTTACCAATGACAATGACCTGGCACTTTTATGTCTGAGACATACCTACTCCCTAGATCCAAGCAGAAAAAGAACATTCCATTAAGACATTCACTTTTACTCTTTTGGCTCCTGTGCATGGGAGTCAAATTCACCGAGTTTGTCCTTTGCCTTAAAACAG
Seq C2 exon
GTGAGGTACCATCAACAATATCAAAAAGAAATGAGGGGAATGGCTGGTCCAGCCATTGGAGCTGAGGGCATCTTGACAAGGGAATGTGCAGACCAATATGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.389 A=NA C2=0.400
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(57.1=44.4)
A:
NA
C2:
PF0088013=Nebulin=PD(35.7=28.6)
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:
TGAGATACACAGAGGACTATGAACA
R:
CTGGCCATATTGGTCTGCACA
Band lengths:
212-508
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