Special

HsaINT0084318 @ hg19

Intron Retention

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49943863-49948337:+
Coord C1 exon
chr12:49943863-49944112
Coord A exon
chr12:49944113-49948119
Coord C2 exon
chr12:49948120-49948337
Length
4007 bp
Sequences
Splice sites
5' ss Seq
TAGGTTTGT
5' ss Score
4.07
3' ss Seq
CCTCTACTTCCTCTCCCCAGGGA
3' ss Score
11.34
Exon sequences
Seq C1 exon
CTGCTGCAGAGCCTCCCTGACGAGCTGCGCGCAGACATCGCCATGCACCTGCACAAGGAGGTCCTGCAGCTGCCACTGTTTGAGGCGGCCAGCCGCGGCTGCCTGCGGGCACTGTCTCTGGCCCTGCGGCCCGCCTTCTGCACGCCGGGCGAGTACCTCATCCACCAAGGCGATGCCCTGCAGGCCCTCTACTTTGTCTGCTCTGGCTCCATGGAGGTGCTCAAGGGTGGCACCGTGCTCGCCATCCTAG
Seq A exon
GTTTGTGAGGGTGGGAGAGAGGGCGTGGGGGCACGTGTGTGTGAGACCATGGCCCTGATCTGTGGAAAACCTGGAGAGGGGACCTCCACAAGGCCACTGAGAGAGAAACAGCCAGGGTGGAGTCAGGAGTAGTTATGGAGTCCTGGTCAAAGCTCAGAGAAGCCCCAGTGACTGCAAGGTGGCAGCGTAAGTAGGTGGACACGATCTCGCAGGTGTCCCTGGGGCCGAGCGAGTGGAGGGCCAGCCTTTGAAAGGAGCCAGTCTATGGGGGACAGAGGGGAGCTGCCCTTCCTTCAGGAGGAAAATCAGAAGCTAGGGATGGAAGTGCTGGGGAGAGTGTCAGGCAGGGCTAAAAAGGGGAGGAACAAAAGCTGTCTTTGTGGTCCCCCAGGAACAGTGAGATGTGACTTTCCTGAGGCAGATCACAGAGCAGGCCCAGAGCCCAGATGGGTGACAGAGCTCAGTCTCCAAACAGTCAGGGAGACTCATTCTGATGAAATGGTATCTACAGTGTATATACTTCCCTTCCTGGGAAAAGAAGGAGGTGAAAAAGGAAATCAGTTCCCTAGACGCAGATGAAGAAATTGCAGGTGTGGAATGGACACAATAGTAGTGCTGATAACAGGGGGCTCACAGCGTGACTAGCCCTGTCCCAGCTCCTTACTGCTTTGTCTCACTCTAACCTCACAAAACCCATTATTCCTATTTTGCATAGCAGGAGACCAAGGTCAGAGAGGTTAATGAACAGCTAGGAATCGGCCAGCCGGGGCTGGAGCCCCATCCACCTGGCGCCAAGTCTCATGCTTCTTCCACAGGGCTCCCAGGTGCTCTGGGGGGAATTGGGACTGGCAGGGAGGAAGCCATCGTTAGGAGGGTTGGACCTGCACTCTAGGATTTGGAGAGTTGGGAGCACATTCTAACTCTCAGGGAAACATGGGGCTGTGTCTGTGAAAAGCCACTAAAGGACCGGGCGCGGTAGCTCAAGCCTATAATTCCAGCACTTTGGCAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAATCCTGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGACACCTGTAATCCAGGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTAAACCCAGGAGATGGAGACTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGATAAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGCCACTAAAGAGGAGCAGAGCTCTATGGCTGCAAGAGACTATCACCGTGACCCTAGAGGGCGGGGAACATGTGACCGGTGTGGGTAGTCAAGGACTTGTACATGTGGGGAGGTGGTGACCTGACCACTGCTGACGACATCGAATCCTCAGGCAGCCAAGGCACGTGTAGATTCACTGTGGGGACTGCTGAAGCCCTGGGGCTGAGGTTTCTCATTCATCTGGCAATCCACAATCAAGATGAGAAGCAGGAAAGGGCCAGGAAGGTGGGGCGGTGTCACCAGACGCAGCTACTGTGTGTCCATCCTTGCTCCCTTGAAGAGGATGACCTTCCAGCTGGAAACAAGAGGAAAAAAATGCCATCGGGGTCTTAGACCCCAAGAGTGGGGACAGGCTGTTCACACCCTTTGTTTTACATCTTTCATGAGTCCAGCTTTGGTGCCTACATGCGGTTTATGCCAGCATGAGAAAATGGAGTTATGCCAGTTAAGTGTAGCTGGCAATCCTTGGAGAGATTCCGAAGGGCACAAGGACAGATTTTCACCACTGTAGACTGGTGAACCCAAAGCAGGATTGACGAGTGGATTACGAAACAGATGGTTTCCAGCCTGGAGCCGAGGGAGTTGTGTGGCTGGGAGCTGGCACAGGTCCTCTCAGAGCATGCCTTTGCTGGTGCCAGGCACCACGTCTCAGAATAGCCATGTTCAGTGTGCAGTATTCAGTGCCACAAGAATGGCTACAGCCTGTGCCCTGGGCCTTTGCCTCTACAATGTCCCTAGCACCAGGACTTATGCCACCGTTGATCCATCCTGTCACCTTCTATATGTTTTGGGTGAACTACTTCCCTGTTGACTTGGAGGCTCTAGATGCCCTGGTGAATGCCTGGTTCCCCGACCCCAATCATGGTCGGGTTCTCTGCTTTGCCTTCATACCTACCCTCTCCTCACCTACCTTTTTACTCGAACATCCAAGTGCATCCTGTCTGCTTCAGGCAGCTCTGGGTTCTGGCGCTTGCCTCTGTTGATGAACTGCTGGAAGCTAAGCATACGCAAAGTCCGTTGTGAGGAAGGAAGTAGTTTGATGAGCTGCACCTGGTGGGCAGTCTCTGGTCCTGAGACTCTGCCCTCGGTCCTGTCCTGTTTCTCATTTTCTCCCACCTCTTAGATGAAGACAAGAAGCACGTGCTTATTCTATTTCAGATGACGCCAATGAAAAGAGAGCACATTCCCCAGATGATCACATTGAGATCCAAACAGCACTCAAAACGACCCAGAAGGATGGCCTGAAACCAAGAAAATCAAGTGTTAAACTATACTTAAGTTGGGGTGCATTCTATACTTAAGTTGGAGCAAAAGTCCAGGAACATGTAGAGGAGACGTGAGCTCAGTGTGTGCTGCTGGCAGTGTGAGGTAGTCCATAGCAGGGCCATCCTTTTTGAAACACTTTCTAACAGTCTGAACTGCCTGGCGGTGGTTGAGCTGCCTTGAGGGTAGTGAGTGCTCTGCCCAAGCCCGGACTGCGTGCCTATCCCTGTTGGAAATGAATTTTTTTTTTTGAGACCAGGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCGACCTACTGGGCTCAAGTGATCCATCCACCTCAGTCTCCAGAATAGCTGAGATTGCAGGTGCACACCACCACACCGAGCTTAATTTTTGCTGCTGTTGTTGTTGTTGTTTGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCGATCCTCCTGCCATGGCCTCCCAAAGTGCTGGGAGTCATTGTGCCTGGCAGGAATGATTTATAGGGGGTTCTATCTGGGAGGGAAAGGAAGAAAATGATTTCTTTTTGGTCGTCTTTGTGTGAGGCACTTTATCTACATTAACTCTAATTTAGCCTCAACATGTCCCTGGACAGACACACCCTATTTCATTGATTCTAAGACACACATCTCACCCACCCTACCCAATCTAACATCTCTGAGATTACACCGCAGGCTCTAATTGATGCCATTTAATAATTACTGTCAGCCAGGTGGCAGTCTTAACCTGCCTGTGGGAAAACCTCCATTGACCCCTTCTGGTGAGATCAAGAATATTCCCTAGACTCAGTTAAATGCAGCATCTCTTGTAGAGCAGAGGCAGCTAGGGCTCAGGAAGGTAAGCCTGGCTGCCTGGCATTTTCCCTATGCCACACAGGGCTCTAATTTGCTGGTTCCAAACACTGATTCCTGGACAAGCTGCATCTGAATCACCTGTGGGACTTAAAAACAATCAGACTGTGGGGTCTCCCATAGATACTGTGACGCTGTAGGTAGAGATAGGGCCTGGGTGTTTGTTCTGACTTTTGCAGGGGATTCTAATCAACATAGCCAGCTGTGAAACACTAGAACTGATGTTCAGTCTCTCTCAGGGCTATAATTCAGGTTTTCTGGCACAGTGGTTTTGATCCTGAATGTGTTTGAGGGCCTGGGTCACAGAGCTCTTTACCCCAAGCCCATGTGGGAGCCAGTGAGACAGGCTGCAGGCGTCAGGCCATGTCCCAGGCCTCTTTGCTCCTCTCTCTGCTGGCTTCAAGGCTTCAGCTACAGAGGCCCAGCCCAGCTCTGAAGGGAATCTCAGCAACCTGCAGCCCCCTCTTCTCTCCTCATGGCTGAAGCTCTCAGGGCTTGCTGACCTCTACTTCCTCTCCCCAG
Seq C2 exon
GGAAGGGCGACCTGATCGGCTGTGAGCTGCCCCGGCGGGAGCAGGTGGTAAAGGCCAATGCCGACGTGAAGGGGCTGACGTACTGCGTCCTGCAGTGTCTGCAGCTGGCTGGCCTGCACGACAGCCTTGCGCTGTACCCCGAGTTTGCCCCGCGCTTCAGTCGTGGCCTCCGAGGGGAGCTCAGCTACAACCTGGGTGCTGGGGGAGGCTCTGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-KCNH3:NM_012284:10
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=0.041
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PU(45.5=47.6)
A:
NA
C2:
PF0002724=cNMP_binding=PD(53.4=64.4)


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

  • Autistic and control brains
  • Pre-implantation embryo development