HsaINT0115724 @ hg38
Intron Retention
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113590578-113592301:-
Coord C1 exon
chr10:113592194-113592301
Coord A exon
chr10:113590890-113592193
Coord C2 exon
chr10:113590578-113590889
Length
1304 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGA
5' ss Score
5.46
3' ss Seq
TCTGCTCCTCTGACTTGCAGTTC
3' ss Score
8.73
Exon sequences
Seq C1 exon
AAAGTCTACAGAAACTCCTGGGAGCAGACCCGGGCTGGCAGTTATGACTTCAGGCTGGATGCCATCCCCTTCCAGACTGCCCGGGCATCTAGGGAGATCGCCAGTGAT
Seq A exon
GTAAGACCCCCATGTTCTCTCCTGCGGTCACTGATGAGTTTTTCTCTGGTTTTCCCAGTTCTGTTGAAAGGCAAACCACCAGGACCTGTCAAGATTATCTCTCTCTCTGCACCAAAACTGAACATGTACTGTATTTTAAATGAAAGAAAAAAAAAAGGGCTTTACTTTCTAGCATCTTAGGCAGAAATTGTGGTCAAGGAGGGCTGTATTTCCATTCTCTTTTTAGAGAGGCACTCTTAAAAGATGATGGATGAGTACCAAGAGGTTCATGAATATGAGCTTGGGTTGTTGATTTGCAATAAAAGGACTTCTTTTAGCTGAAGTTCAGTGTGGTAGAGTAGAAAGAGATAGGGCTTTTGCCCTAGATGGACAAGTTCAAATCCTGGCTCAGTCACTTAGGAAATTTGGCTGTTTGTCTTGGGCAAGTTGCTCAAATTCTCTGAACTTGATTTTCTACATCTATGAAATAGGGATCTTATCTCCCAGATTAATGTAGGAATGAAAACAAAATCGTATATGGTGTCAGGAACATAGCAGGTATTCTGCAAGAGAGGGCACCATTGACTAGACAAGTGTCCACAGTGCTAGACGGAGGCGCACCTGGGAACAGTTTCCTGCTGGTCCACAATTGGATAAGTACAGAAATTAAGAGCATGGGATTTTTGAAATATTTTTTAGCAATTAGACGTTGTAACATCCAAGCATGTGATCACTGGACTCATCTCATTGAAAAGGGTGAAGGCCAGGTTGGGTGTTACCAAATACAAGTGGTACTGCTACATACTAGCCACATGCAATAGGACCATACATGGGTCTTTGATGCATTGGAAATGTAAAAAGCAAATCAAAATGGGACTGGCCCTTCACTGTAGATGGTTTGAGGAGCACTGGACTAGGTCCCTAAAAGCTGGAAAGAATCAAAGGCAGAGTGGCCTATGTGAGAATGGGCACATTTATCTTCCTGTTGGAGTATTAATTACAATAGTGACAATACCAGTAGCCACCACTCAGTGGGCCAGAGCTGATGCCAGACATGAAGCTCAGTCCTTATCTGGTTGAATCCTCGCAACCTCCTATGGGGTGTAGATCATTCTCCAATTTTATCAGATGGGGAAACTGAGGCTCATGGAGAAACTCAGTAACAGGCCCATGACCACACAGATAGGTCTATTTGAATCCAAAGCCTGTGCCTCTAACCCACTCTTGAGCCTCCTGCTGAGAATGCCCTGGGATGGCCCCATATGTGAGGCTGGTCCTGGGGGAGGTAGGCACCCATGATCTGCCTCTGCTCCTCTGACTTGCAG
Seq C2 exon
TTCCGGTACAAAGAGGCTTTCCTGCGGGACCGAGGCCTGCAGATCGGGTACCGCAGTGTCGACGATGACCCAAGGATGAAGCATTTCCTCAACGTTGGCAGGCTCCAGAGTGACAATGAGTACAAGAAGGACTTTGCCAAGAGTCGGTCCCAGTTTCACAGCAGCACAGACCAGCCCGGCCTCCTTCAGGCCAAGAGGAGCCAGCAGCTGGCCAGTGATGTGCACTACAGGCAGCCCCTGCCCCAGCCCACCTGCGACCCGGAGCAGCTGGGCCTCAGGCATGCTCAGAAGGCCCACCAGCTGCAGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:39
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=0.644
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
NA
C2:
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)
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:
GATGCCATCCCCTTCCAGACT
R:
GCCTTCTGAGCATGCCTGAG
Band lengths:
344-1648
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development