Special

HsaALTD1042488-3/3 @ hg38

Alternative 5'ss

Gene
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113589666-113590889:-
Coord C1 exon
chr10:113590671-113590889
Coord A exon
chr10:113590578-113590670
Coord C2 exon
chr10:113589666-113589797
Length
93 bp
Sequences
Splice sites
5' ss Seq
GATGTGAGC
5' ss Score
4.72
3' ss Seq
GCTTCCCTCTTACCCTCAAGGTC
3' ss Score
8.09
Exon sequences
Seq C1 exon
TTCCGGTACAAAGAGGCTTTCCTGCGGGACCGAGGCCTGCAGATCGGGTACCGCAGTGTCGACGATGACCCAAGGATGAAGCATTTCCTCAACGTTGGCAGGCTCCAGAGTGACAATGAGTACAAGAAGGACTTTGCCAAGAGTCGGTCCCAGTTTCACAGCAGCACAGACCAGCCCGGCCTCCTTCAGGCCAAGAGGAGCCAGCAGCTGGCCAGTGAT
Seq A exon
GTGCACTACAGGCAGCCCCTGCCCCAGCCCACCTGCGACCCGGAGCAGCTGGGCCTCAGGCATGCTCAGAAGGCCCACCAGCTGCAGAGTGAT
Seq C2 exon
GTCAAGTATAAATCAGACTTGAACCTGACCAGAGGTGTTGGCTGGACCCCTCCTGGCTCCTACAAAGTGGAAATGGCTCGGCGGGCTGCGGAACTGGCCAACGCAAGGGGCCTGGGTCTCCAGGGAGCTTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-65-59,66-59,67-59-3/3
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact

Protein isoform when splice site is used (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.644 A=NA C2=0.352
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=WD(100=21.2),PF0088013=Nebulin=PU(53.6=14.4)
A:
NA
C2:
PF0088013=Nebulin=PD(39.3=25.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCATTTCCTCAACGTTGGCA
R:
CCAACACCTCTGGTCAGGTTC
Band lengths:
181-274
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains