Special

HsaEX6090554 @ hg19

Exon Skipping

Gene
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115383288-115385904:-
Coord C1 exon
chr10:115385806-115385904
Coord A exon
chr10:115384585-115384689
Coord C2 exon
chr10:115383288-115383395
Length
105 bp
Sequences
Splice sites
3' ss Seq
TCAGTGCTCTTTCCCAACAGGTG
3' ss Score
12.1
5' ss Seq
GAGGTACAG
5' ss Score
6.62
Exon sequences
Seq C1 exon
AAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGG
Seq A exon
GTGGCCTACAAGGCAGGAAATGAGCAGTCTGTCCATCAGTATACCATCAGCAAAGACGAGCCTCTCTTCCTGCAGGCCCGAGCCAATGCTGCAAATCTCAGCGAG
Seq C2 exon
AAACTGTATAAGAGCAGCTGGGAAAACCAGAAAGCAAAAGGGTTTGAGCTGCGTCTTGATTCCTTGACCTTCCTGGCAGCCAAAGCCAAGAGGGACCTGGCTAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'22-24,'22-23,23-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.434 A=0.067 C2=0.000
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(35.7=30.3),PF0088013=Nebulin=PU(55.2=48.5)
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)


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:
AAAAACTACCGGCAGAGGGTC
R:
GCTAGCCAGGTCCCTCTTGG
Band lengths:
204-309
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains