Special

HsaINT0115726 @ hg19

Intron Retention

Gene
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115349425-115350648:-
Coord C1 exon
chr10:115350337-115350648
Coord A exon
chr10:115349557-115350336
Coord C2 exon
chr10:115349425-115349556
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-NRAP:NM_198060:40
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.656 A=NA C2=0.341
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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