Variant Details for SPN
Basic Information Top
Gene Symbol: | SPN ( CD43,GPL115,LSN ) |
---|---|
Gene Full Name: | sialophorin |
Band: | 16p11.2 |
Quick Links | Entrez ID:6693; OMIM: 182160; Uniprot ID:LEUK_HUMAN; ENSEMBL ID: ENSG00000197471; HGNC ID: 11249 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
---|---|---|---|---|---|---|---|
Number | 50 | 0 | 0 | 0 | 0 | 0 | 50 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000260 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Finelli, 2004 |
AutCNV0000012 | 16 | 16p11.2 | 29671214 | 30173788 | 502574 | loss | external link | Sebat, 2007 |
AutCNV0000018 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | loss | external link | Weiss, 2008 |
AutCNV0000017 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Weiss, 2008 |
AutCNV0000233 | 16 | 16p11.2 | 29563450 | 30266942 | 703492 | loss | external link | Christian, 2008 |
AutCNV0000232 | 16 | 16p11.2 | 29563450 | 30151818 | 588368 | loss | external link | Christian, 2008 |
AutCNV0000193 | 16 | 16p11.2 | 29632499 | 30332499 | 700000 | loss | external link | Kumar, 2008 |
AutCNV0000187 | 16 | 16p11.2 | 29652488 | 30328317 | 675829 | loss | external link | Marshall, 2008 |
AutCNV0000186 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
AutCNV0000185 | 16 | 16p11.2 | 29652488 | 30177807 | 525319 | gain | external link | Marshall, 2008 |
AutCNV0000152 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
AutCNV0000151 | 16 | 16p11.2 | 29652488 | 30328317 | 675829 | loss | external link | Marshall, 2008 |
AutCNV0000369 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
AutCNV0000370 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
AutCNV0002903 | 16 | 16p11.2 | 29672982 | 29715745 | 42763 | gain | external link | Pinto, 2010 |
AutCNV0000812 | 16 | 16p11.2 | 29595483 | 30303348 | 707865 | gain | external link | Pinto, 2010 |
AutCNV0000811 | 16 | 16p11.2 | 29647342 | 30287723 | 640381 | loss | external link | Pinto, 2010 |
AutCNV0000810 | 16 | 16p11.2 | 29595483 | 30219525 | 624042 | loss | external link | Pinto, 2010 |
AutCNV0000794 | 16 | 16p11.2 | 29595483 | 30219525 | 624042 | loss | external link | Pinto, 2010 |
AutCNV0000669 | 16 | 16p11.2 | 29592783 | 30198600 | 605817 | loss | external link | Shen, 2010 |
AutCNV0004337 | 16 | 16p11.2 | 29592357 | 30205302 | 612945 | loss | external link | Sanders, 2011 |
AutCNV0003844 | 16 | 16p11.2 | 29649593 | 30176674 | 527081 | gain | external link | Levy, 2011 |
AutCNV0004347 | 16 | 16p11.2 | 29652488 | 30328317 | 675829 | loss | external link | Sanders, 2011 |
AutCNV0004336 | 16 | 16p11.2 | 29592357 | 30215621 | 623264 | loss | external link | Sanders, 2011 |
AutCNV0003843 | 16 | 16p11.2 | 29649593 | 30200001 | 550408 | loss | external link | Levy, 2011 |
AutCNV0004346 | 16 | 16p11.2 | 29647342 | 30263310 | 615968 | loss | external link | Sanders, 2011 |
AutCNV0004335 | 16 | 16p11.2 | 29412503 | 30177807 | 765304 | loss | external link | Sanders, 2011 |
AutCNV0003726 | 16 | 16p11.2 | 29647342 | 30408765 | 761423 | loss | external link | Gai, 2011 |
AutCNV0004345 | 16 | 16p11.2 | 29647342 | 30199805 | 552463 | loss | external link | Sanders, 2011 |
AutCNV0003852 | 16 | 16p11.2 | 29673618 | 30205180 | 531562 | gain | external link | Levy, 2011 |
AutCNV0004344 | 16 | 16p11.2 | 29647342 | 30215621 | 568279 | loss | external link | Sanders, 2011 |
AutCNV0003851 | 16 | 16p11.2 | 29665166 | 30203695 | 538529 | loss | external link | Levy, 2011 |
AutCNV0004343 | 16 | 16p11.2 | 29647342 | 30094180 | 446838 | loss | external link | Sanders, 2011 |
AutCNV0003850 | 16 | 16p11.2 | 29665166 | 30301881 | 636715 | loss | external link | Levy, 2011 |
AutCNV0004342 | 16 | 16p11.2 | 29647342 | 30130493 | 483151 | loss | external link | Sanders, 2011 |
AutCNV0003849 | 16 | 16p11.2 | 29656178 | 30200001 | 543823 | loss | external link | Levy, 2011 |
AutCNV0004341 | 16 | 16p11.2 | 29595483 | 30199805 | 604322 | loss | external link | Sanders, 2011 |
AutCNV0003848 | 16 | 16p11.2 | 29651749 | 30284160 | 632411 | loss | external link | Levy, 2011 |
AutCNV0004351 | 16 | 16p11.2 | 29671214 | 30173788 | 502574 | loss | external link | Sanders, 2011 |
AutCNV0004340 | 16 | 16p11.2 | 29595483 | 30239528 | 644045 | loss | external link | Sanders, 2011 |
AutCNV0003847 | 16 | 16p11.2 | 29651749 | 30200001 | 548252 | loss | external link | Levy, 2011 |
AutCNV0004350 | 16 | 16p11.2 | 29655864 | 30223361 | 567497 | gain | external link | Sanders, 2011 |
AutCNV0000719 | 16 | 16p11.2 | 29592783 | 30332581 | 739798 | gain | external link | Bremer, 2011 |
AutCNV0004339 | 16 | 16p11.2 | 29595483 | 30332203 | 736720 | loss | external link | Sanders, 2011 |
AutCNV0003846 | 16 | 16p11.2 | 29651749 | 30203695 | 551946 | gain | external link | Levy, 2011 |
AutCNV0004349 | 16 | 16p11.2 | 29655864 | 30177807 | 521943 | loss | external link | Sanders, 2011 |
AutCNV0004338 | 16 | 16p11.2 | 29592357 | 30199805 | 607448 | loss | external link | Sanders, 2011 |
AutCNV0003845 | 16 | 16p11.2 | 29649593 | 30200001 | 550408 | gain | external link | Levy, 2011 |
AutCNV0004348 | 16 | 16p11.2 | 29652488 | 30177807 | 525319 | gain | external link | Sanders, 2011 |
AutCNV0005137 | 19 | 19p13.3 | 2940905 | 3957892 | 1016987 | external link | Shin S, 2015 |
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |
NGS Mosaic Mutations Top
Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
No related data! |
NGS Other Mutations Top
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |
Low-Scale Gene Mutations Top
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |
Linkage Regions Top
Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |