Special

HsaEX6062952 @ hg38

Exon Skipping

Gene
Description
NIMA related kinase 6 [Source:HGNC Symbol;Acc:HGNC:7749]
Coordinates
chr9:124339571-124353307:+
Coord C1 exon
chr9:124339571-124339665
Coord A exon
chr9:124347709-124347822
Coord C2 exon
chr9:124350837-124353307
Length
114 bp
Sequences
Splice sites
3' ss Seq
GTTGTTCCCGTCCCTTGCAGATG
3' ss Score
11.8
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TGGGGACGCCCTACTACATGTCACCGGAGAGGATCCATGAGAACGGCTACAACTTCAAGTCCGACATCTGGTCCCTGGGCTGTCTGCTGTACGAG
Seq A exon
ATGGCAGCCCTCCAGAGCCCCTTCTATGGAGATAAGATGAATCTCTTCTCCCTGTGCCAGAAGATCGAGCAGTGTGACTACCCCCCACTCCCCGGGGAGCACTACTCCGAGAAG
Seq C2 exon
TTACGAGAACTGGTCAGCATGTGCATCTGCCCTGACCCCCACCAGAGACCTGACATCGGATACGTGCACCAGGTGGCCAAGCAGATGCACATCTGGATGTCCAGCACCTGAGCGTGGATGCACCGTGCCTTATCAAAGCCAGCACCACTTTGCCTTACTTGAGTCGTCTTCTCTTCGAGTGGCCACCTGGTAGCCTAGAACAGCTAAGACCACAGGGTTCAGCAGGTTCCCCAAAAGGCTGCCCAGCCTTACAGCAGATGCTGAAGGCAGAGCAGCTGAGGGAGGGGCGCTGGCCACATGTCACTGATGGTCAGATTCCAAAGTCCTTTCTTTATACTGTTGTGGACAATCTCAGCTGGGTCAATAAGGGCAGGTGGTTCAGCGAGCCACGGCAGCCCCCTGTATCTGGATTGTAATGTGAATCTTTAGGGTAATTCCTCCAGTGACCTGTCAAGGCTTATGCTAACAGGAGACTTGCAGGAGACCGTGTGATTTGTGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119408-'31-44,'31-40,36-44=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

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

C1:
PF0006920=Pkinase=FE(11.8=100)
A:
PF0006920=Pkinase=FE(14.1=100)
C2:
PF0006920=Pkinase=PD(10.7=75.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCTACTACATGTCACCGGA
R:
AGTAAGGCAAAGTGGTGCTGG
Band lengths:
247-361
Functional annotations
There are 1 annotated functions for this event
PMID: 16476580
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, glutathione s tranferase tag, pull down. ELM ID: ELMI002028; ELM sequence: ALQSPF; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains