Special

HsaEX0043746 @ hg38

Exon Skipping

Gene
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113617455-113622180:-
Coord C1 exon
chr10:113621869-113622180
Coord A exon
chr10:113620604-113620708
Coord C2 exon
chr10:113617455-113617553
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTTCTCCTTTGTCAGAAC
3' ss Score
9.15
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
GTGAAGTACAAGGAGGATTATGAGAGATCCAGAGGGAAGCTCATTGGGGCAAAAGATGTACAGGGAGATTCGCAAATGAGCCACTCACTGCAAATGTCCAAGCTGCAGAGTGAGCTGGAGTACAAGAAGGGATTCGAGGACACCAAATCCCAATGCCACGTCTCCCTGGACATGGTCCACCTCGTGCATGCCCGCAAAGCTCAGCATTTAGCCACAGACGTAGGCTACAAGACAGCGGAACATCACTTTACGGCTTTGCCCACAGACATGAAGGTGGAATGGGCCAAGAAGGCTTATGGCTTACAGAGTGAT
Seq A exon
AACCAATACAGGGCAGATGTGAAGTGGATGAAAGGCATGGGCTGGGTCGCCACCGGGTCATTAAATGTGGAGCAGGCGAAGAAGGCAGGAGAACTCATTAGCGAG
Seq C2 exon
AAGAAGTACCGTCAGCATCCAGATGCTTTGAAGTTTACCAGTATTAAAGACACTCCGGAGATGGTCCAGGCCAGAATTAGTTATACCCAAGCAGTGGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893_MULTIEX3-4/4=3-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.067 A=0.086 C2=0.030
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=26.9),PF0088013=Nebulin=PU(53.6=14.4)
A:
PF0088013=Nebulin=PD(39.3=31.4),PF0088013=Nebulin=PU(55.6=42.9)
C2:
PF0088013=Nebulin=PD(37.0=30.3),PF0088013=Nebulin=PU(55.2=48.5)


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)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGACACCAAATCCCAATGCC
R:
GGACCATCTCCGGAGTGTCTT
Band lengths:
243-348
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