Special

HsaINT0049509 @ hg19

Intron Retention

Gene
ENSG00000185842 | DNAH14
Description
dynein, axonemal, heavy chain 14 [Source:HGNC Symbol;Acc:2945]
Coordinates
chr1:225586222-225586996:+
Coord C1 exon
chr1:225586222-225586368
Coord A exon
chr1:225586369-225586755
Coord C2 exon
chr1:225586756-225586996
Length
387 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATC
5' ss Score
7.46
3' ss Seq
GATTTTTTTTTTTTTTAAAGATT
3' ss Score
8.02
Exon sequences
Seq C1 exon
GGCTCAGCTTCCTCTCACACTGGAGTTTACATTTTTGGTTTATTCATCGAGGGGGCAAGATGGAATCGTGAACAGAAAATACTGGAAGACTCGCTGCCTCTGGAGATGTGCTGTGATTTTCCCGACATATACTTTTTGCCAACAAAG
Seq A exon
GTAATCACCCTGCTATTATCCTGAAGTCCTAAACCTCTGAGCGTTGCTTCAGTAATATACAAACCACTCTTATTCCCATTCCCTACAATTTTGCAAGGGAGATGTGATAATATACTCAGACAACAAAGATTTTAAATCTCCCAAAATATTACTAAAATCTAAAGTAGATGCTATACTTACATCCCATGTTCTCAATAATATGTACTATAAAGCCATAATACTCTTTAAATTCTCCAGGTATAATTTCCACATGCTGTTACATTAACCATTTAACCTTAAATGTATCTAATTCATAACAAATCCCTCAAGCCTAGCATACAGAAAATGTGAGCTACTGATTCACTTGAACTATGCAATTTGACTACTGGATTTTTTTTTTTTTTAAAG
Seq C2 exon
ATTTCTACCAAAACACCAAATGCTTCCAACCAGACAGATTCAGAACTCTATGCTTTTGAATGCCCAGTTTACCAGACACCTGAGAGGTCAAGAATTTTGGCAACTACCGGTTTACCAACAAACTTTTTAACATCAGTGTATTTATCAACGAAGAAACCTCCTAGTCACTGGATCACAATGCGGGTTGCATTGCTTTGTGAGAAGAATGAAAAATAAATGTCCATATCAAACCATTTTAATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842-DNAH14:NM_001373:83
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.014
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(23.8=100)
A:
NA
C2:
PF0302810=Dynein_heavy=PD(32.5=91.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
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:
GCTCAGCTTCCTCTCACACTG
R:
CTCACAAAGCAATGCAACCCG
Band lengths:
347-734
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development