Special

HsaEX6090551 @ hg19

Exon Skipping

Gene
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115388676-115391389:-
Coord C1 exon
chr10:115391268-115391389
Coord A exon
chr10:115389347-115389544
Coord C2 exon
chr10:115388676-115388780
Length
198 bp
Sequences
Splice sites
3' ss Seq
CTTGTTTTGGTATATTCAAGGTT
3' ss Score
7.15
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
ACCTTCTTCTTTCTCTCAAGATTAAATATAAAGAAGAATATGAAAAGACAAAAGGCAAAGCCATGGGAACAGCCGACTCTAGGCTTCTGCACTCCCTGCAGATTGCTAAGATGAGCAGTGAG
Seq A exon
GTTGAATATAAGAAAGGCTTTGAAGAGAGTAAGACCCGGTTTCACCTGCCCATGGATATGGTAAACATCAGGCATGCTAAGAAGGCCCAAACTCTCGCCAGTGACCTGGACTACAGGAAGAAACTGCATGAATACACTGTGCTGCCTGAAGATATGAAGACTCAGTGGGCCAAGAAGGCCTATGGGCTCCAGAGCGAG
Seq C2 exon
CTGCAGTACAAGGCTGACCTGGCATGGATGAAGGGAGTTGGGTGGCTGACAGAGGGGAGTCTCAACTTGGAACAAGCCAAGAAGGCTGGACAGCTGGTCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'18-20,'18-19,20-20=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.021 A=0.000 C2=0.060
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(37.9=32.4),PF0088013=Nebulin=PU(50.0=38.2)
A:
PF0088013=Nebulin=PD(42.3=16.7),PF0088013=Nebulin=WD(100=40.9),PF0088013=Nebulin=PU(55.2=24.2)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(57.1=45.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGAATATGAAAAGACAAAAGGCA
R:
TGGCTTGTTCCAAGTTGAGACT
Band lengths:
170-368
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains