Evidence Details for ZNF81


Gene Symbol: | ZNF81 ( FLJ44367,HFZ20,MRX45,dJ54B20.6 ) |
---|---|
Gene Full Name: | zinc finger protein 81 |
Band: | Xp11.23 |
Quick Links | Entrez ID:347344; OMIM: 314998; Uniprot ID:ZNF81_HUMAN; ENSEMBL ID: ENSG00000197779; HGNC ID: 13156 |
Relate to Another Database: | SFARIGene; denovo-db |


>ZNF81|347344|nucleotide
ATGCCAGCTAACGAGGACGCTCCCCAGCCAGGGGAACATGGCAGTGCCTGTGAGGTATCAGTGTCATTTGAGGATGTGACTGTGGACTTCAGTAGAGAGGAGTGG
CAGCAACTGGACTCTACTCAAAGACGCCTGTACCAGGATGTAATGTTGGAGAACTACAGCCACCTGCTCTCAGTGGGGTTCGAAGTTCCTAAACCAGAGGTCATC
TTCAAGTTGGAGCAAGGAGAGGGGCCATGGACATTGGAAGGGGAAGCCCCACATCAGAGCTGTTCAGATGGGAAATTTGGAATTAAGCCTTCCCAGAGGAGAATT
TCTGGGAAATCTACATTTCATAGTGAAATGGAGGGTGAAGACACAAGAGATGATTCATTATACTCTATTTTAGAAGAATTGTGGCAAGATGCTGAACAGATAAAG
AGATGTCAGGAAAAACACAACAAACTTCTGAGTCGCACTACTTTCCTCAATAAGAAAATATTGAATACAGAGTGGGATTATGAATATAAAGACTTTGGAAAATTT
GTTCATCCAAGCCCAAATCTCATTCTTTCACAGAAAAGACCCCATAAACGTGATTCATTTGGGAAGAGTTTTAAGCATAATTTAGACTTACATATTCATAATAAA
AGCAATGCAGCAAAGAACCTGGATAAAACTATTGGGCATGGTCAAGTTTTTACCCAGAACTCTTCTTATAGTCACCACGAAAATACACATACAGGAGTGAAGTTC
TGTGAACGTAATCAATGTGGAAAAGTCCTCAGCCTCAAACACTCACTCAGTCAAAATGTGAAATTTCCCATTGGAGAGAAAGCAAACACATGTACTGAATTTGGG
AAGATCTTCACCCAGAGGTCACATTTCTTTGCTCCTCAAAAAATTCATACTGTGGAAAAACCTCATGAGCTTAGCAAATGTGTAAATGTTTTTACACAGAAGCCA
CTACTCAGTATATATCTGAGAGTTCATAGAGATGAAAAACTCTACATATGTACTAAATGTGGGAAGGCCTTCATCCAGAATTCAGAATTAATTATGCATGAGAAA
ACTCATACTAGAGAGAAACCCTATAAATGCAATGAATGTGGGAAATCATTTTTCCAGGTGTCATCTCTACTCAGGCATCAGACAACTCATACTGGAGAAAAACTC
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ATGCCAGCTAACGAGGACGCTCCCCAGCCAGGGGAACATGGCAGTGCCTGTGAGGTATCAGTGTCATTTGAGGATGTGACTGTGGACTTCAGTAGAGAGGAGTGG
CAGCAACTGGACTCTACTCAAAGACGCCTGTACCAGGATGTAATGTTGGAGAACTACAGCCACCTGCTCTCAGTGGGGTTCGAAGTTCCTAAACCAGAGGTCATC
TTCAAGTTGGAGCAAGGAGAGGGGCCATGGACATTGGAAGGGGAAGCCCCACATCAGAGCTGTTCAGATGGGAAATTTGGAATTAAGCCTTCCCAGAGGAGAATT
TCTGGGAAATCTACATTTCATAGTGAAATGGAGGGTGAAGACACAAGAGATGATTCATTATACTCTATTTTAGAAGAATTGTGGCAAGATGCTGAACAGATAAAG
AGATGTCAGGAAAAACACAACAAACTTCTGAGTCGCACTACTTTCCTCAATAAGAAAATATTGAATACAGAGTGGGATTATGAATATAAAGACTTTGGAAAATTT
GTTCATCCAAGCCCAAATCTCATTCTTTCACAGAAAAGACCCCATAAACGTGATTCATTTGGGAAGAGTTTTAAGCATAATTTAGACTTACATATTCATAATAAA
AGCAATGCAGCAAAGAACCTGGATAAAACTATTGGGCATGGTCAAGTTTTTACCCAGAACTCTTCTTATAGTCACCACGAAAATACACATACAGGAGTGAAGTTC
TGTGAACGTAATCAATGTGGAAAAGTCCTCAGCCTCAAACACTCACTCAGTCAAAATGTGAAATTTCCCATTGGAGAGAAAGCAAACACATGTACTGAATTTGGG
AAGATCTTCACCCAGAGGTCACATTTCTTTGCTCCTCAAAAAATTCATACTGTGGAAAAACCTCATGAGCTTAGCAAATGTGTAAATGTTTTTACACAGAAGCCA
CTACTCAGTATATATCTGAGAGTTCATAGAGATGAAAAACTCTACATATGTACTAAATGTGGGAAGGCCTTCATCCAGAATTCAGAATTAATTATGCATGAGAAA
ACTCATACTAGAGAGAAACCCTATAAATGCAATGAATGTGGGAAATCATTTTTCCAGGTGTCATCTCTACTCAGGCATCAGACAACTCATACTGGAGAAAAACTC
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>ZNF81|347344|protein
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGEGPWTLEGEAPHQSCSDGKFGIKPSQRRI
SGKSTFHSEMEGEDTRDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKILNTEWDYEYKDFGKFVHPSPNLILSQKRPHKRDSFGKSFKHNLDLHIHNK
SNAAKNLDKTIGHGQVFTQNSSYSHHENTHTGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEKPHELSKCVNVFTQKP
LLSIYLRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKCNECGKSFFQVSSLLRHQTTHTGEKLFECSECGKGFSLNSALNIHQKIHTGERHHKCSECG
KAFTQKSTLRMHQRIHTGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFPSKSQLQMHKRIHTGEKPYICTECGKAFTNRSNLNTHQKSHTGEKS
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MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGEGPWTLEGEAPHQSCSDGKFGIKPSQRRI
SGKSTFHSEMEGEDTRDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKILNTEWDYEYKDFGKFVHPSPNLILSQKRPHKRDSFGKSFKHNLDLHIHNK
SNAAKNLDKTIGHGQVFTQNSSYSHHENTHTGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEKPHELSKCVNVFTQKP
LLSIYLRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKCNECGKSFFQVSSLLRHQTTHTGEKLFECSECGKGFSLNSALNIHQKIHTGERHHKCSECG
KAFTQKSTLRMHQRIHTGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFPSKSQLQMHKRIHTGEKPYICTECGKAFTNRSNLNTHQKSHTGEKS
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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) | Yes | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |


Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Inheritance | XL |
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OMIM | Mental retardation, X-linked 45 (300498) |
Description | Non-syndromic X-linked ID |
Reference(s) | 15121780; |
Level | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |




Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Edens, 2011 | Austria | FISH, aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Honduras | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Austria | FISH, aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Honduras | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |














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