Evidence Details for KAL1
Basic Information Top
| Gene Symbol: | KAL1 ( ADMLX,HHA,KAL,KALIG-1,KMS ) |
|---|---|
| Gene Full Name: | Kallmann syndrome 1 sequence |
| Band: | Xp22.32 |
| Quick Links | Entrez ID:3730; OMIM: 308700; Uniprot ID:KALM_HUMAN; ENSEMBL ID: ENSG00000011201; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KAL1|3730|nucleotide
ATGGTGCCCGGGGTGCCCGGCGCGGTCCTGACCCTCTGCCTCTGGCTGGCGGCCTCCAGCGGCTGCCTGGCGGCCGGCCCCGGCGCGGCTGCTGCGCGGCGGCTG
GACGAGTCGCTGTCTGCCGGGAGCGTCCAGCGCGCTCGCTGCGCCTCCAGGTGCCTGAGCCTGCAGATCACTCGCATCTCCGCCTTCTTCCAGCACTTCCAGAAC
AATGGTTCCCTGGTTTGGTGCCAGAATCACAAGCAATGTTCTAAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGT
GAGCCTCTCTTCCCCAAGAAGAGCTACGAATGCTTGACCAGCTGTGAGTTCCTCAAATACATCCTGTTGGTGAAGCAGGGGGACTGTCCGGCTCCTGAGAAAGCC
AGTGGATTTGCGGCCGCCTGTGTTGAAAGCTGCGAAGTTGACAATGAGTGCTCTGGGGTGAAGAAATGTTGTTCGAATGGGTGTGGACACACCTGTCAAGTACCC
AAGACTCTGTACAAAGGTGTCCCCCTGAAGCCCAGAAAAGAGTTACGATTTACAGAACTGCAGTCTGGACAGCTGGAGGTTAAGTGGTCCTCGAAATTCAATATT
TCTATTGAGCCTGTGATCTATGTGGTACAAAGAAGATGGAATTATGGAATCCATCCTAGCGAAGATGACGCCACTCACTGGCAGACAGTGGCCCAGACCACAGAC
GAGCGAGTTCAACTGACTGACATAAGACCCAGCCGATGGTACCAGTTTCGAGTGGCTGCTGTGAATGTGCATGGAACTCGAGGCTTCACTGCCCCCAGCAAACAC
TTCCGTTCTTCCAAAGATCCATCTGCCCCACCAGCACCGGCTAACCTCCGGCTGGCCAACTCCACCGTCAACAGTGATGGGAGTGTGACCGTCACTATAGTTTGG
GATCTCCCCGAGGAGCCGGACATCCCTGTGCATCATTACAAGGTCTTTTGGAGCTGGATGGTCAGCAGTAAGTCTCTTGTCCCAACAAAGAAGAAGCGGAGAAAG
ACTACGGATGGGTTTCAAAATTCTGTGATCCTGGAGAAACTCCAGCCAGACTGTGACTATGTTGTGGAATTGCAAGCCATAACGTACTGGGGACAGACACGGCTG
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ATGGTGCCCGGGGTGCCCGGCGCGGTCCTGACCCTCTGCCTCTGGCTGGCGGCCTCCAGCGGCTGCCTGGCGGCCGGCCCCGGCGCGGCTGCTGCGCGGCGGCTG
GACGAGTCGCTGTCTGCCGGGAGCGTCCAGCGCGCTCGCTGCGCCTCCAGGTGCCTGAGCCTGCAGATCACTCGCATCTCCGCCTTCTTCCAGCACTTCCAGAAC
AATGGTTCCCTGGTTTGGTGCCAGAATCACAAGCAATGTTCTAAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGT
GAGCCTCTCTTCCCCAAGAAGAGCTACGAATGCTTGACCAGCTGTGAGTTCCTCAAATACATCCTGTTGGTGAAGCAGGGGGACTGTCCGGCTCCTGAGAAAGCC
AGTGGATTTGCGGCCGCCTGTGTTGAAAGCTGCGAAGTTGACAATGAGTGCTCTGGGGTGAAGAAATGTTGTTCGAATGGGTGTGGACACACCTGTCAAGTACCC
AAGACTCTGTACAAAGGTGTCCCCCTGAAGCCCAGAAAAGAGTTACGATTTACAGAACTGCAGTCTGGACAGCTGGAGGTTAAGTGGTCCTCGAAATTCAATATT
TCTATTGAGCCTGTGATCTATGTGGTACAAAGAAGATGGAATTATGGAATCCATCCTAGCGAAGATGACGCCACTCACTGGCAGACAGTGGCCCAGACCACAGAC
GAGCGAGTTCAACTGACTGACATAAGACCCAGCCGATGGTACCAGTTTCGAGTGGCTGCTGTGAATGTGCATGGAACTCGAGGCTTCACTGCCCCCAGCAAACAC
TTCCGTTCTTCCAAAGATCCATCTGCCCCACCAGCACCGGCTAACCTCCGGCTGGCCAACTCCACCGTCAACAGTGATGGGAGTGTGACCGTCACTATAGTTTGG
GATCTCCCCGAGGAGCCGGACATCCCTGTGCATCATTACAAGGTCTTTTGGAGCTGGATGGTCAGCAGTAAGTCTCTTGTCCCAACAAAGAAGAAGCGGAGAAAG
ACTACGGATGGGTTTCAAAATTCTGTGATCCTGGAGAAACTCCAGCCAGACTGTGACTATGTTGTGGAATTGCAAGCCATAACGTACTGGGGACAGACACGGCTG
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>KAL1|3730|protein
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSFC
EPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGVKKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNI
SIEPVIYVVQRRWNYGIHPSEDDATHWQTVAQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVW
DLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPF
QRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSGMTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSA
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MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNHKQCSKCLEPCKESGDLRKHQCQSFC
EPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGVKKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNI
SIEPVIYVVQRRWNYGIHPSEDDATHWQTVAQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVW
DLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPF
QRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSGMTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSA
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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 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Thomas, 1999 | - | FISH |  |  | autism | - | - | - | - | 3 | - | 3 |
| Vazna, 2010 | Czech | aCGH | | | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top