Special

HsaINT0049213 @ hg19

Intron Retention

Gene
Description
dynein, axonemal, heavy chain 1 [Source:HGNC Symbol;Acc:2940]
Coordinates
chr3:52378506-52379722:+
Coord C1 exon
chr3:52378506-52378663
Coord A exon
chr3:52378664-52379510
Coord C2 exon
chr3:52379511-52379722
Length
847 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
CTTGGCCCCTATCCCTGCAGGGC
3' ss Score
11.14
Exon sequences
Seq C1 exon
GGTTCTAGAGCACCTCAGCAGTCTTGCCAGAGAAGTGAGCCTGGACTATGAGCGCAGCATGAACAAGATCAACTTTGACCACGTTGTCTCTTCCAAGCCCGAGACCTTCTCCTACGTCACCCTCCCCAAGAAGGAGGAGGAGCAGGTGCCTGAGCGAG
Seq A exon
GTGAGGGTCACTGGACCAAGATGGGCTCCATGGCCATCCACCTGGCCAGAGCCCCCTCCCACCTTCCCCTCCAGGATTGTCTGCCCTGCCATTGTGGGCGTCATCAGCCCAACACTCCCTGCACCTCCCCTGTCTCCAGCACTTGTCCCACTTCTCCCTGCTGCCTGGAGGGCTCTGGACCAGGGGAAGGGAAGAAGGCTCTTTTTGAACTTATTAGTGAGAATAGCACAGAAGTTGCAAGGTGAATGTGTACTAGGAAACAATGCTTCAGCAGTAGGTGGAAGGGGCTCTGCTGATCAGACCTAGAGGATAGTCCTTCTTCCTCCAGTAGCAAGAGAGGAGACCGAGTCTCAGAGCAGGACCCCGGGGCCCAAGAACCCTCCTTGCTTTCAGCTCACCTGCCAGCCTTCCTAGACTCAGCTTCCTGCATGTCATGTACTCCGGATGCAGGCTGGGGTGTGGACAGTGGGCATTCCAAGAGGTTCTGGTACCTACCCTTTCCTTCCTTGGTGCCCCAGGGCAGGCTGTGGACAGACCTTAAGCTTGTGTGCAGCACGGGCAGGAGTGGATGAGGAGAGGGTTCTTGGTTCTCATCTACTTCTCAGAGGAGCCTGTGACTAGGGGGTCCTGGAAGGAATTCCTTTACCCATCTCAGAGTAGGCACCTCACTGAAGAGCTTCAGTGCCACTCCGGCAAACTATGGAAAGGCGGGGCTCTGGGAACGCCAGTCACTCTTCAGGGAGAAGGCAGGAGTCATGGCCCTCCTTCAAGCACCCTGTGGATCTGTCCTGTCCCCTGGTTTGGCCAGGCAGGGTCTGATACTGGCCCTTGGCCCCTATCCCTGCAG
Seq C2 exon
GGCTGGTGAGTGTCCCCAAGTACCACTTCTGGGAGCAGAAGGAGGACTTCACTTTCGTGTCCCTGCTCACACGGCCAGAGGTCATCACGGCCCTCAGCAAGGTGAGGGCCGAGTGCAACAAGGTGACCGCCATGTCCCTGTTCCACTCGAGCCTCTCCAAGTACAGCCACCTGGAGGAATTTGAGCAGATCCAGTCACAGACCTTCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841-DNAH1:NM_015512:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.005 A=NA C2=0.010
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGCCAGAGAAGTGAGCCTG
R:
TGGGAGAAGGTCTGTGACTGG
Band lengths:
347-1194
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