Special

HsaINT0049207 @ hg19

Intron Retention

Gene
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52430884-52431893:+
Coord C1 exon
chr3:52430884-52431060
Coord A exon
chr3:52431061-52431722
Coord C2 exon
chr3:52431723-52431893
Length
662 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
GTTGGCCTCCTCTCTCCTAGGGC
3' ss Score
9.24
Exon sequences
Seq C1 exon
GTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCAC
Seq A exon
GTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAG
Seq C2 exon
GGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-DNAH1:NM_015512:73
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=0.101
Domain overlap (PFAM):

C1:
PF0302810=Dynein_heavy=FE(12.9=100)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(12.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCTCAAGTACACGGCAGG
R:
GGCTGCCTGCAGAAGATGATT
Band lengths:
334-996
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