HsaINT0115728 @ hg38
Intron Retention
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113651803-113653039:-
Coord C1 exon
chr10:113652935-113653039
Coord A exon
chr10:113651908-113652934
Coord C2 exon
chr10:113651803-113651907
Length
1027 bp
Sequences
Splice sites
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
3' ss Seq
CTCTACTGTCTTCTCATCAGGTG
3' ss Score
9.46
Exon sequences
Seq C1 exon
GAATATACAGAAGACTATGAGCAACCCAGGGGCAAGGGGAGCTTTCCAGCCATGATCACACCTGCTTATCAAAGGGCCAAGAAAGCCAACCAGCTGGCCAGCCAA
Seq A exon
GTGAGTGCCTGGGTGCTTTTTCACCATTGATTATGCTAATTTTTGTCATTAATGAGCCCCCGTGATTTAGGGAAAAAACAGTAAGAGAGTGCTTTGGGGAAGTAGGTACCATTAGTGTCATATTACAGAGAAAACTGTGTTCTTACTTTTCCCCGTCAAGTATTCTCTGTGCTGTGATTGGACCATGTCTATAAAATACAGAGAAGAATGTATAGTTCACCCAAAGTCTGGACCACATGATTTCTTGAGTTTGCTTTAGCACTGAACACATTATTATTTTACATTTTTATTTTTATTTTATTTATTTATTTTTATTTTTATTTTATTTTTATTTTTATTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTTTGTATTTTTAGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTAATCTCTTGACCCTGTGATCCACCCAACTTGGCCTCCCAAAGTGCTGGGATTACTCGGGTGAGCCACCACAGCCAGCCGAAGACACTAATTTTTAACTGGATGTCAGGTTCACCGGAAGAGTAGCAAAGTTTATTTGTTAAAAGCTTAGATTTTGGAGCCAGAATGTTGAAATTTGAATCCTGACTCTATCCCTTAGTGCTATGTGACCATGGACAAATTACTTAATTTCTCTCTTTCTTGGCTTCTCGTTTGTAAAGTGAGGAAAACATTAGTCCTGCCAAATATGATTGTTATGGAGATTAAGCAAGTTAATATTTGTTGGAGTGTGGCAGTCCCTGGCACACTCCTGGACTTAGCACATTGGCATAGATGCTTTTTGAGGAGGAGCCCATGAAACAAGCCACAGAAGACTTGCCACAGGTTTGCATTGAGTGTAGCCTGATGGTGCAGCTTTAGGAGAGCCACAGGGAGAGGTCACTGAGGAGGCTGTGAGGTGGGTGCACCCTTGACTCTACTGTCTTCTCATCAG
Seq C2 exon
GTGGAGTATAAGAGAGGGCATGATGAACGCATCTCCAGGTTCTCCACGGTGGTGGATACTCCTGAGCTGCTACGGAGCAAGGCTGGGGCACAGCTTCAAAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893:ENST00000359988:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.771 A=NA C2=0.543
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=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:
ATACAGAAGACTATGAGCAACCCA
R:
ATCACTTTGAAGCTGTGCCCC
Band lengths:
206-1233
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