Special

HsaINT0084328 @ hg19

Intron Retention

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49937958-49942956:+
Coord C1 exon
chr12:49937958-49938165
Coord A exon
chr12:49938166-49942677
Coord C2 exon
chr12:49942678-49942956
Length
4512 bp
Sequences
Splice sites
5' ss Seq
TTGGTACTG
5' ss Score
2.29
3' ss Seq
CCCTGCTGTTCCCCCCTCAGGCT
3' ss Score
10.94
Exon sequences
Seq C1 exon
TACTTCGGGGCCCATCTGCTGAAGACGGTGCGCCTGCTGCGCCTGCTGCGCCTGCTTCCGCGGCTGGACCGGTACTCGCAGTACAGCGCCGTGGTGCTGACACTGCTCATGGCCGTGTTCGCCCTGCTCGCGCACTGGGTCGCCTGCGTCTGGTTTTACATTGGCCAGCGGGAGATCGAGAGCAGCGAATCCGAGCTGCCTGAGATTG
Seq A exon
GTACTGGAGGCTCCCTCTGCATGTGGTGGGGAGGGAGTTGTGTCAGAGGAGTGTGAGTGCCAGCGTGGGTGCAGATGTGTGGTGTCCCTACCTGTGCAAGTCTGCACGTGTGCAAATCAGAGAAGAGGGTGTGCAGGTGTGAGTGTGACAGCCACCACCACGTGACGGGCCTGTTCTCCAGCAGCTGGGCCTTGTGGAGAAAGCCCAAGGAGTCCCAGTCGCCCATCCAGGCCTCCTGTGGCCAAATGTTGGTCACATTCCTTAAACCCCTGCCCCGTTGGGAAGGCCAAGCAGGGAGCCACTGCCCTCCAGGGTTTCTCTGACACCCGGCACTCCCCACCCCTCCCCCCGCATCCTCTCTGAAGCTTGTCCCCACCACCTTGGCTTCCAAGGCCCCTGCCTTTCTCTTGTCACCTCCAGTCCACATTTCTTCTGTCATCTCTAGTCCACATTTCTCCCCGCTGCATCCTGCTCTCCCCTGGCCTAAAAAGCAGGCTTTCTGCGTCCCCAGCATCTTCACTCTCCTTCATGTCACCTCCTCTCCTTCCACAGCTCCTCTCTGCTCACCACCCACTCACATCTTAACTCCTGCTGGGAGGGCTTCCACCCCCACCTCTGCACCCAAAATGTCACCTGGAAGGTCACAGTGACCTTCTGGGACCAAACCCTCATCCTCCTTGAAGTCCCTGTATCACCTGACCCTGCCAACCATAGTTCCTCTCAGCTGTGGGTGATGCAGCCCTCAGCTGGCCTCCTCCCAGCTCCTCCAAGTTCCAGGGTCTCCAGACCTTTCCTCACAGCTCTCCCCCTTCACCTTGCTTTCCCTCGGCTATTCCACTGACACCGAGTGAGCATCTCAACTTCCACCCTTTCTCTAGCCAAACCATTCCATTCCAGCTGTTTTTAACTCTCGATGCGCCTCAGGTCCAAAATCAAACCTGACCTCTTCCTCCCCAGCCCTCCAGCCCTTTGTCAGCTTCCAGGTAACTGACATTTAGCCGGGTTTCCAGATGCAGGTGGCTTTTTTTTTTTTTTTTTTTTGAGCTGTCACTCAGGCTGGAGTACAGTGGCGTGATCTAGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCATCCGCCAGCACGCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCAGGTGGCCTCGTATGACTGTCTGCTCCTTGGCAGAGTCACCAGGTGTCCAGATCAGCCTTAGAAACCCGGTCTGATCAGTTTCCTGGGAACTACAAGGCTCCTGTGAATCCTCTCTCCCTCTGCAAGCTCACAGGAGGCCTGTGTGTGTCACAGAGGACCCATTTGAAATTTTCCCCAAGTGCTCTCACTGCTGAGTAGGTGGAAACCAGGACACTCCGGGCAGTGACACCTCCTTGGTGCCTGCTATTCCCAGAGGAAGCCTGTGGTGTCAGCTGCTCTGGGGTCAGACGGCCACAAGATGGACAATGGTGAAACAAAGCCTGTCTCCACCACCCCCAAAGTGGGCTGAGACACCAAATCCCTAGGTCCACTCCCGCCCCCTGAAATGGGACCCAGACACCCTTGGTCTTGTGTCCACGAGACTCCTCTCTTCCAACCACCTCACAGGGGTTGCTGATCTGACATTAAGAAGACCTTCAGCTCCCAAGAATCTCTGAGCTCCACAGGATGGGCAAGGGTGGATCGACCCTTGCAGATACACATTATATTCTTTCACCCTTGACCCCTGAGTTCCAGGGTGGTTTCGTTCCATTTGAGCCGGTACTAGTCTACATTTAGAGACTTTACAAGTTCTTCACATCATCATCTCCTCTTTCTCCAGGGAATCTGCCCCCTAACTGGGTTGGCACCAAACCCAGACCTCTCCAAGTCCAGCCCTGGCAGGAGAGTTCCTTGCAGGGGGAGGTGAGGCTGAGGTGGGGGGGTGGGCAGCTGGCCCAGTTCAGTCTGGTGGGCAGCTCCTTCTCCAAGCTTCCTTGCCTGGGTTTCCTTTTCCACTGCCCATGATGTGGACAGAGTTCCTTCCCCAGGTTCCCACTAGCCCAGTGGAGGTGGGCTGGATTTTCACAAGACTGTGCTGAGTATTGAGGGAGAGAACTCAGAGCACTCCTTGGTGTGCGAGCCCCCAGCCTCCGGGACAGCTCCTGCTGGCCTGACCCCGCCCACCTGGAGGCACAATCCTGGCCCCAGCTTCAGGGGTTGCTGATGCCCCATGGCCAAGACTGAAAGATCAGAGGCCTCCCTGCCACCCTCCCCTGTGTCCTGCTGCTTCTCCCCACCTTCCCTATCCTGGGCATTTGGCTTTGGGTAGCTTCACCCTCAGAGGCCAACTAAACAGTGACTGTGAAGAGTTTTACGTACTCCAATTTTATTTTATTTTTTCTGGAGACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAACGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGTGTTCAAGCAATTCTTCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCACGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCGACCTCCCAAAGTGCTGGGATTACATGCATGAGCCACTGCACCCAACCATGTACTCCACTGCATTCTTATGGCACATCTCAGATAATGGGAAGGTGAGCCCCCACCTTGGTGCAGGTCTTAGTACATCCTCCTAAATTCCTTAGCCTGGAATGTAATGCCCTCAGTGTTAACCCCACATTCTAGCCAAACTCAGCTACTTGCCTGTACTTGTCTTAAAATATCAGTCTCCAGGTTTGGCTCGTGCCTGTCCCTCCACCAGGAATGACCCCCTCAGTTTCTTTGTATCAAAACCCTACTACCCTTTGAAACCAAGCACAAATGTCCCTTCTTCCAGAAGCCTTCTAGCCCTAGCCCATGGCACTTGGTTCGAGCCCCCCTCCCTTCCTGCCGTGTGGCACCTCTGAGATGTAGTTCTGGCCCTATGTCACCTGCCCTTCTGAACTGGAGCCCTCAGGGAGCTCCTGTGGGGCCCCCAGCTCCTGGCACACAGTGTGTGAGGTTGCTGAATGAATGAGTGGGTGGATGACAAGTGTGTGCGGGCCACAGGACCCATATGCCTGAAGTGTTGGGGAGAGTCTGGAGTAGGGGGTCTGTGCTGAGGTGGGAGGAGCAGGGCACAAGTGGAGAGGTGGGGTCCAACTGCATCCTGTGACCCCAAGCCACAGCCACACATACCCTCTGCCTCACCATTCTAGATCAGCCAATCCGCCCTCTCTCCCTTGCACCCCATGGCCCCCAGCTCTGCCAGGACCTCTGTGGATCTTGGGATCCCCCATCCAACACCCTAGAGCTCCTGCAACCCTCCAGCTAGGCTCAAGAGTGACTCCCAGCACACAGCCTTGGGAGAGACCTCAGCGCACAACCCTACTCCATGCCAAGGCCAGGTGGAGAACTTCGGGCTGAGGGGCAATCCAGCCTCTGCTCCGTGGCCCGGTCTAGCCTGTGACTACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCACCTGTGTGAATGTATTCGCCTGTGTGCTCTTGTCCACGAAAGTGTGTCTTCACCCTCTGCCTGAGTGACAGTGTGTAGGTACCAGTGTACCTTTGTCCCTCTCCCAAGTGTGCACAGCCTTTTCAGTGAGTGGCTGTGTTGAGGCGCCTGTAAGGGGCATACATGTGTCCTTGTCTTCTTGACTGTGTGGGGCACACACATAGCCTTAACAGTGTGTGTGCATGTCCATGCAGGCGTGCTTGGCACCTGTGTGTGAGGCTGAGTGGTTTGTGTGGCTGTGGGGATGGATGAGACTGAATGGGGAGGGGAGGGAGGGCCTTCTGGAGTTGATGGGCTCAGAGAAATGCAGGAAGAGGAGTCCCGTTGGACAGGTGGAGGTGAGGGCGGAGGTGGCCTCACCATCCATCTTTTGGGGTTGAGGCTGTGGTTGAATGCAGTGAGCACCCCAGTCCTTTTGCCCACGCCAGCCAGGCCCTCCGACTGGGCCCGTTACCTGGGATGGGTGCCAGCCATGGGGGAAGGGGTGTGATTTCCCTTGTGTCATCCTCAGTGCCAATAGGAGCTGGCTGGGGAAATGGCAGACTCTTCTGAGGGTTGAGGGGGTGGAGAGGGGTGTGCTAGGCTGGCAGTGAAGGGGCAAAGCGGCGGGAAGCCATGGGGCTGGGTCTGTGTCTGCGTGTCCCCACCCCCAGGGCCCGGCATCCTCGCCCACAGTCTTCCTGCCTGCTCAGGCCCTGCTGTTCCCCCCTCAG
Seq C2 exon
GCTGGCTGCAGGAGCTGGCCCGCCGACTGGAGACTCCCTACTACCTGGTGGGCCGGAGGCCAGCTGGAGGGAACAGCTCCGGCCAGAGTGACAACTGCAGCAGCAGCAGCGAGGCCAACGGGACGGGGCTGGAGCTGCTGGGCGGCCCGTCGCTGCGCAGCGCCTACATCACCTCCCTCTACTTCGCACTCAGCAGCCTCACCAGCGTGGGCTTCGGCAACGTGTCCGCCAACACGGACACCGAGAAGATCTTCTCCATCTGCACCATGCTCATCGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-KCNH3:NM_012284:7
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=0.096
Domain overlap (PFAM):

C1:
PF0052026=Ion_trans=FE(29.0=100)
A:
NA
C2:
PF0052026=Ion_trans=FE(39.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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