HsaALTD1042483-2/2 @ hg38
Alternative 5'ss
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113629588-113631610:-
Coord C1 exon
chr10:113631509-113631610
Coord A exon
chr10:113631275-113631508
Coord C2 exon
chr10:113629588-113629785
Length
234 bp
Sequences
Splice sites
5' ss Seq
AAGGTACAA
5' ss Score
6.82
3' ss Seq
CTTGTTTTGGTATATTCAAGGTT
3' ss Score
7.15
Exon sequences
Seq C1 exon
ATTAAATATAAAGAAGAATATGAAAAGACAAAAGGCAAAGCCATGGGAACAGCCGACTCTAGGCTTCTGCACTCCCTGCAGATTGCTAAGATGAGCAGTGAG
Seq A exon
GTAAACTCTTTTCTAACCCCCAACCTCTCACTTACAGTTGTGTTATTTTAAAAGTTTTCCCTGGGCCTACTTCACCTGGGACTGTAACCTTTTTATTGACTTCTACCTGCAACTCCTTTCTTTCCTGGCTTGCATAAGAAGTTTGTTTGGTTTATTTGTTTTGCCAAAGCATACTATTTTTTTTTAAATAGATAAGGAGTGTGGCCCTAAGGGTGACAGCATCTGCTGATCAAG
Seq C2 exon
GTTGAATATAAGAAAGGCTTTGAAGAGAGTAAGACCCGGTTTCACCTGCCCATGGATATGGTAAACATCAGGCATGCTAAGAAGGCCCAAACTCTCGCCAGTGACCTGGACTACAGGAAGAAACTGCATGAATACACTGTGCTGCCTGAAGATATGAAGACTCAGTGGGCCAAGAAGGCCTATGGGCTCCAGAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-27-23,28-23-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
ORF disruption when splice site is used (sequence inclusion)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=32.4)
A:
NA
C2:
PF0088013=Nebulin=WD(100=40.9),PF0088013=Nebulin=PU(55.2=24.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGAATATGAAAAGACAAAAGGCA
R:
CCTTCTTGGCCCACTGAGTCT
Band lengths:
269-503
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains