Special

HsaEX6056788 @ hg38

Exon Skipping

Gene
ENSG00000174844 | DNAH12
Description
dynein axonemal heavy chain 12 [Source:HGNC Symbol;Acc:HGNC:2943]
Coordinates
chr3:57408280-57415564:-
Coord C1 exon
chr3:57415426-57415564
Coord A exon
chr3:57413746-57413912
Coord C2 exon
chr3:57408280-57408535
Length
167 bp
Sequences
Splice sites
3' ss Seq
ATTCTTCCTTCATATTTTAGAAC
3' ss Score
9.98
5' ss Seq
TTGGTAACT
5' ss Score
4.27
Exon sequences
Seq C1 exon
GCCACTCCTTTTTGTGGGTCCAACGGGTACAGGAAAATCTGTGTATGTGAAGGATAAGCTAATGAATCACTTGGAAAAGGACCAGTACTTTCCTTTTTATATTAACTTATCTGCACGGACCAGCGCCAATCAGGTTCAG
Seq A exon
AACATTATCATGGCTAGATTGGATAAAAGACGCAAAGGAGTCTTTGGACCACCTATGGGAAAGAAGTGTATAATTTTTATAGATGATATGAATATGCCTGCATTGGAGAAGTATGGAGCTCAACCACCTATTGAATTATTACGACAGTTTTTTGACTGTGGACATTG
Seq C2 exon
GTACGACCTTAAGGACACAAGTAAAATCACGCTGGTGGACATAGAGCTGATTGCTGCAATGGGCCCTCCAGGTGGTGGAAGAAATCCAGTTACTCCCCGTTGTATTCGACATTTCAACATCTGCAGTATTAATTCTTTTAGTGATGAAACTATGGTCCGAATCTTCTCATCTATTGTAGCATTCTACCTTAGAACTCATGAATTTCCTCCAGAGTACTTTGTAATTGGGAACCAGATAGTCAATGGGACTATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-'50-55,'50-54,51-55=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF127752=AAA_7=FE(16.8=100)
A:
PF127752=AAA_7=FE(20.1=100)
C2:
PF127752=AAA_7=FE(31.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([2])
Chicken
(galGal3)
HIGH PSI
([3])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTTTTTGTGGGTCCAACGG
R:
ATGTCGAATACAACGGGGAGT
Band lengths:
246-413
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains