AutismKB 2.0

Evidence Details for HCN4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HCN4 ( SSS2 )
Gene Full Name: hyperpolarization activated cyclic nucleotide-gated potassium channel 4
Band: 15q24.1
Quick LinksEntrez ID:10021; OMIM: 605206; Uniprot ID:HCN4_HUMAN; ENSEMBL ID: ENSG00000138622; HGNC ID: 16882
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HCN4|10021|nucleotide
ATGGACAAGCTGCCGCCGTCCATGCGCAAGCGGCTCTACAGCCTCCCGCAGCAGGTGGGGGCCAAGGCGTGGATCATGGACGAGGAAGAGGACGCCGAGGAGGAG
GGGGCCGGGGGCCGCCAAGACCCCAGCCGCAGGAGCATCCGGCTGCGGCCACTGCCCTCGCCCTCCCCCTCGGCGGCCGCGGGTGGCACGGAGTCCCGGAGCTCG
GCCCTCGGGGCAGCGGACAGCGAAGGGCCGGCCCGCGGCGCGGGCAAGTCCAGCACGAACGGCGACTGCAGGCGCTTCCGCGGGAGCCTGGCCTCGCTGGGCAGC
CGGGGCGGCGGCAGCGGCGGCACGGGGAGCGGCAGCAGTCACGGACACCTGCATGACTCCGCGGAGGAGCGGCGGCTCATCGCCGAGGGCGACGCGTCCCCCGGC
GAGGACAGGACGCCCCCAGGCCTGGCGGCCGAGCCCGAGCGCCCCGGCGCCTCGGCGCAGCCCGCAGCCTCGCCGCCGCCGCCCCAGCAGCCACCGCAGCCGGCC
TCCGCCTCCTGCGAGCAGCCCTCGGTGGACACCGCTATCAAAGTGGAGGGAGGCGCGGCTGCCGGCGACCAGATCCTCCCGGAGGCCGAGGTGCGCCTGGGCCAG
GCCGGCTTCATGCAGCGCCAGTTCGGGGCCATGCTCCAACCCGGGGTCAACAAATTCTCCCTAAGGATGTTCGGCAGCCAGAAAGCCGTGGAGCGCGAACAGGAG
AGGGTCAAGTCGGCCGGATTTTGGATTATCCACCCCTACAGTGACTTCAGATTTTACTGGGACCTGACCATGCTGCTGCTGATGGTGGGAAACCTGATTATCATT
CCTGTGGGCATCACCTTCTTCAAGGATGAGAACACCACACCCTGGATTGTCTTCAATGTGGTGTCAGACACATTCTTCCTCATCGACTTGGTCCTCAACTTCCGC
ACAGGGATCGTGGTGGAGGACAACACAGAGATCATCCTGGACCCGCAGCGGATTAAAATGAAGTACCTGAAAAGCTGGTTCATGGTAGATTTCATTTCCTCCATC
CCCGTGGACTACATCTTCCTCATTGTGGAGACACGCATCGACTCGGAGGTCTACAAGACTGCCCGGGCCCTGCGCATTGTCCGCTTCACGAAGATCCTCAGCCTC
Show »

>HCN4|10021|protein
MDKLPPSMRKRLYSLPQQVGAKAWIMDEEEDAEEEGAGGRQDPSRRSIRLRPLPSPSPSAAAGGTESRSSALGAADSEGPARGAGKSSTNGDCRRFRGSLASLGS
RGGGSGGTGSGSSHGHLHDSAEERRLIAEGDASPGEDRTPPGLAAEPERPGASAQPAASPPPPQQPPQPASASCEQPSVDTAIKVEGGAAAGDQILPEAEVRLGQ
AGFMQRQFGAMLQPGVNKFSLRMFGSQKAVEREQERVKSAGFWIIHPYSDFRFYWDLTMLLLMVGNLIIIPVGITFFKDENTTPWIVFNVVSDTFFLIDLVLNFR
TGIVVEDNTEIILDPQRIKMKYLKSWFMVDFISSIPVDYIFLIVETRIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIVN
LIGMMLLLCHWDGCLQFLVPMLQDFPDDCWVSINNMVNNSWGKQYSYALFKAMSHMLCIGYGRQAPVGMSDVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRR
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top