Special

HsaINT0115706 @ hg19

Intron Retention

Gene
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115383288-115384689:-
Coord C1 exon
chr10:115384585-115384689
Coord A exon
chr10:115383396-115384584
Coord C2 exon
chr10:115383288-115383395
Length
1189 bp
Sequences
Splice sites
5' ss Seq
GAGGTACAG
5' ss Score
6.62
3' ss Seq
TCTCTCCTAAATCCCCTTAGAAA
3' ss Score
7.67
Exon sequences
Seq C1 exon
GTGGCCTACAAGGCAGGAAATGAGCAGTCTGTCCATCAGTATACCATCAGCAAAGACGAGCCTCTCTTCCTGCAGGCCCGAGCCAATGCTGCAAATCTCAGCGAG
Seq A exon
GTACAGAGAGAATGAGTGGGCAGCAAGAACTCTGCTCCCCTTTGTGTATAGCCACCTGGTAAACCAAGCCCACCAGCCATGGCATAGTGTCTGTATCAACTGAGGTTACATACATCTGGTTGTTGTAAAAACAGCTCACCCAGCAGATCTGGCTCCTGATCAGTGTTTTAGGGGGAGAGGAGGACAGCTTTCATAGGAATGAGCTAGTGGAGGACTTGAGCTGCTGATTGTATCCTGGGGTTGGAGGTAGGGGTTATTCTAGGTGCCAGAGTTGAAACAGCATAATCGTGTTAGAGGGGAGTAAGAGCTCAGACATTTGCTCCAAATGGTCTGGGTTTGATCCTCGGTTGCCACTTACTAGGTGTGTGACCTTGGGCAAATTCTTTGTTTCCAGGTGTCCCATTGGTAAAATGATACCAATATTAGTCCCGTCCTTACTGGGTTGTCATGAGGTTTCAGTGAGTCTCTATACATCAAGCACTCAGAGGCAAGTGCACAGTGGTAGCTGTTAGTCATGAAAGCATCCATAGTTCCAACTTCCCCTTCTCTGTATCTTCTGGGGAAAGTGTTTTCTTGGCTCTCCCTGCTTAGCTCCCAGGTCTTTGGGTTCCTCATCTGAGAAATAGATGGGGAGGAGAATTGGGAGGAGAAACAGAGGTTAAATTGATTCACATGCAGAAAGGGAAAGGAGGCTTCCAGAAGAAAGATCTCGACATTTGGAGATAGGAGCAGGAGAGAGAACAGGAGGCGCAAGGAAAAGACCCAGGTGGACTAGAGAGGCTGGGGGAAGGCGGGAGGAAAGAGAAAGAGGTGCAGCTGGAGCCGCTGCTGGCAGGGTGGGGTGCGTGGACAGAGATGGAGAATAGACTTTTCAGAAATGTCGCTGTGTTGTGCGATGTTATCCTGCCTTTGGCATGTTTTTGAGACTTCCACGAAAACTCCTAGTATTTGTTAAGGCTTCTGGAGTTTAATTTCTGCTTTTTTTGATTGAAGCCCTATGTGTTAAAAGGCCTTAAGGCAGGAAGAAGGCCTGGCTGTATTCAGACTACATGATTTCTGTGGCTCTCAGAGAAGGACGTAATAATCAGTATTGCTTTCCTAGAATCGTCATTAGAATCTAGAGAAATGCTCTCACGTGAGAACCCTCTCACATGAAAACCCACTCACCTTCTCTCCTAAATCCCCTTAG
Seq C2 exon
AAACTGTATAAGAGCAGCTGGGAAAACCAGAAAGCAAAAGGGTTTGAGCTGCGTCTTGATTCCTTGACCTTCCTGGCAGCCAAAGCCAAGAGGGACCTGGCTAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-NRAP:NM_198060:22
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.067 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGGCAGGAAATGAGCAGT
R:
CTCGCTAGCCAGGTCCCTC
Band lengths:
206-1395
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