Evidence Details for KCNIP4
Basic Information Top
| Gene Symbol: | KCNIP4 ( CALP,KCHIP4,MGC44947 ) |
|---|---|
| Gene Full Name: | Kv channel interacting protein 4 |
| Band: | 4p15.31-p15.2 |
| Quick Links | Entrez ID:80333; OMIM: 608182; Uniprot ID:KCIP4_HUMAN; ENSEMBL ID: ENSG00000185774; HGNC ID: 30083 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCNIP4|80333|nucleotide
ATGAGTGGCTGTAGAAAGCGGTGTAAACGTGAAATACTGAAATTTGCCCAGTACCTTCTCAGACTATTAACAGGTTCTCTTCATACAGACAGCGTGGAAGATGAA
CTGGAGATGGCCACCGTCAGGCATCGGCCTGAAGCCCTTGAGCTTCTGGAAGCCCAGAGCAAATTTACCAAGAAAGAGCTTCAGATCCTTTACAGAGGATTTAAG
AATGAATGCCCCAGTGGTGTTGTTAATGAAGAAACCTTCAAAGAGATTTACTCGCAGTTCTTTCCACAGGGAGACTCTACAACATATGCACATTTTCTGTTCAAT
GCATTTGATACAGACCACAATGGAGCTGTGAGTTTCGAGGATTTCATCAAAGGTCTTTCCATTTTGCTCCGGGGGACAGTACAAGAAAAACTCAATTGGGCATTT
AATCTGTATGACATAAATAAAGATGGCTACATCACTAAAGAGGAAATGCTTGATATAATGAAAGCAATATACGATATGATGGGTAAATGTACATATCCTGTCCTC
AAAGAAGATGCTCCCAGACAACACGTTGAAACATTTTTTCAGAAAATGGACAAAAATAAAGATGGGGTTGTTACCATAGATGAGTTCATTGAAAGCTGCCAAAAA
GATGAAAACATAATGCGCTCCATGCAGCTCTTTGAAAATGTGATTTAA
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ATGAGTGGCTGTAGAAAGCGGTGTAAACGTGAAATACTGAAATTTGCCCAGTACCTTCTCAGACTATTAACAGGTTCTCTTCATACAGACAGCGTGGAAGATGAA
CTGGAGATGGCCACCGTCAGGCATCGGCCTGAAGCCCTTGAGCTTCTGGAAGCCCAGAGCAAATTTACCAAGAAAGAGCTTCAGATCCTTTACAGAGGATTTAAG
AATGAATGCCCCAGTGGTGTTGTTAATGAAGAAACCTTCAAAGAGATTTACTCGCAGTTCTTTCCACAGGGAGACTCTACAACATATGCACATTTTCTGTTCAAT
GCATTTGATACAGACCACAATGGAGCTGTGAGTTTCGAGGATTTCATCAAAGGTCTTTCCATTTTGCTCCGGGGGACAGTACAAGAAAAACTCAATTGGGCATTT
AATCTGTATGACATAAATAAAGATGGCTACATCACTAAAGAGGAAATGCTTGATATAATGAAAGCAATATACGATATGATGGGTAAATGTACATATCCTGTCCTC
AAAGAAGATGCTCCCAGACAACACGTTGAAACATTTTTTCAGAAAATGGACAAAAATAAAGATGGGGTTGTTACCATAGATGAGTTCATTGAAAGCTGCCAAAAA
GATGAAAACATAATGCGCTCCATGCAGCTCTTTGAAAATGTGATTTAA
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>KCNIP4|80333|protein
MSGCRKRCKREILKFAQYLLRLLTGSLHTDSVEDELEMATVRHRPEALELLEAQSKFTKKELQILYRGFKNECPSGVVNEETFKEIYSQFFPQGDSTTYAHFLFN
AFDTDHNGAVSFEDFIKGLSILLRGTVQEKLNWAFNLYDINKDGYITKEEMLDIMKAIYDMMGKCTYPVLKEDAPRQHVETFFQKMDKNKDGVVTIDEFIESCQK
DENIMRSMQLFENVI
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MSGCRKRCKREILKFAQYLLRLLTGSLHTDSVEDELEMATVRHRPEALELLEAQSKFTKKELQILYRGFKNECPSGVVNEETFKEIYSQFFPQGDSTTYAHFLFN
AFDTDHNGAVSFEDFIKGLSILLRGTVQEKLNWAFNLYDINKDGYITKEEMLDIMKAIYDMMGKCTYPVLKEDAPRQHVETFFQKMDKNKDGVVTIDEFIESCQK
DENIMRSMQLFENVI
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Evidence summary TopClick 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 (1) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top