HsaEX0042205 @ hg38
Exon Skipping
Gene
ENSG00000072864 | NDE1
Description
nudE neurodevelopment protein 1 [Source:HGNC Symbol;Acc:HGNC:17619]
Coordinates
chr16:15667286-15677949:+
Coord C1 exon
chr16:15667286-15667439
Coord A exon
chr16:15672690-15672771
Coord C2 exon
chr16:15677801-15677949
Length
82 bp
Sequences
Splice sites
3' ss Seq
ACAGGTTTTCATGTCCACAGGTT
3' ss Score
8.95
5' ss Seq
TAGGTTAAT
5' ss Score
1.23
Exon sequences
Seq C1 exon
GGCAGAAAATACGCAAGAGGAACTCCGAGAATTCCAGGAGGGAAGCCGAGAATATGAAGCTGAATTGGAGACGCAGCTGCAACAAATTGAAACCAGGAACAGAGACCTCCTGTCCGAAAATAACCGCCTTCGCATGGAGCTGGAAACCATCAAG
Seq A exon
GTTCCGAGGAGATCTCTCAATCGCCAGTGCAGTCGGTGGAGCCCACTCGCTGCGTCCTCCTGGAGCCTGCGTTTGAATTTAG
Seq C2 exon
GAGAAGTTTGAAGTGCAGCACTCTGAAGGCTACCGGCAGATCTCAGCCTTGGAGGATGACCTCGCGCAGACCAAAGCCATTAAAGACCAATTGCAGAAATACATCAGAGAGCTGGAGCAAGCAAATGACGACCTGGAAAGAGCCAAGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072864-'12-40,'12-37,15-40=AN
Average complexity
A_C1
Mappability confidence:
92%=83=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.738 A=0.000 C2=0.260
Domain overlap (PFAM):
C1:
PF079267=TPR_MLP1_2=FE(66.2=100),PF104734=CENP-F_leu_zip=FE(56.0=100),PF040127=PspA_IM30=FE(60.7=100),PF088265=DMPK_coil=FE(91.1=100)
A:
PF104734=CENP-F_leu_zip=PD(17.6=57.1),PF040127=PspA_IM30=PD(25.0=75.0),PF088265=DMPK_coil=PD(1.8=3.6)
C2:
PF040127=PspA_IM30=PD(18.4=29.2)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATGGAGCTGGAAACCATCA
R:
CTTGGCTCTTTCCAGGTCGTC
Band lengths:
170-252
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