Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:533715 | PMID:1065870 | PMID:1321014 | PMID:1730777 | PMID:1939159 | PMID:2017684 | PMID:2133555 | PMID:2153284 | PMID:2891112 | PMID:3001717 | PMID:3042787 | PMID:3422741 |
PMID:3443302 | PMID:3459156 | PMID:3461452 | PMID:3512548 | PMID:3687940 | PMID:4460867 | PMID:4812951 | PMID:4955840 | PMID:6072617 | PMID:6186142 | PMID:6651840 | PMID:7072721 |
PMID:7748466 | PMID:8244974 | PMID:11124260 | PMID:11278620 | PMID:11352565 | PMID:11857742 | PMID:11937510 | PMID:11938765 | PMID:12081485 | PMID:12372831 | PMID:12477932 | PMID:12493773 |
PMID:12616539 | PMID:12851398 | PMID:14595869 | PMID:15489334 | PMID:15715171 | PMID:15815621 | PMID:15907827 | PMID:15946677 | PMID:16303743 | PMID:16344560 | PMID:16431676 | PMID:16815919 |
PMID:16893177 | PMID:17787764 | PMID:18416535 | PMID:18752324 | PMID:18775313 | PMID:18802949 | PMID:19450995 | PMID:19570815 | PMID:19574883 | PMID:19595020 | PMID:20299338 | PMID:20360068 |
PMID:20655896 | PMID:20663553 | PMID:20693656 | PMID:21516013 | PMID:21692598 | PMID:21868091 | PMID:21873635 | PMID:21910833 | PMID:21939286 | PMID:22190034 | PMID:22268729 | PMID:22333159 |
PMID:22641346 | PMID:24019514 | PMID:24043717 | PMID:24247025 | PMID:24296104 | PMID:24332808 | PMID:24856042 | PMID:25409280 | PMID:25416956 | PMID:25464930 | PMID:25906119 | PMID:26988336 |
PMID:27342126 | PMID:28049764 | PMID:28514442 | PMID:29117863 | PMID:29970708 | PMID:30097533 | PMID:30413534 | PMID:30417313 | PMID:30833792 | PMID:31324722 | PMID:31586073 | PMID:32296183 |
PMID:32472757 | PMID:32728117 | PMID:32906115 | PMID:32918806 | PMID:32934082 | PMID:33144569 | PMID:33545068 | PMID:33961781 | PMID:34363325 | PMID:34428361 | PMID:34831233 | PMID:35676659 |
PMID:36526897 | PMID:36763725 | PMID:36949045 | PMID:37952310 |
ALPP (Homo sapiens - human) |
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Alpp (Rattus norvegicus - Norway rat) |
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LOC100991867 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LOC100522404 (Sus scrofa - pig) |
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ALPP (Chlorocebus sabaeus - green monkey) |
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Variants in ALPP
52 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001632.3(ALPP):c.74C= (p.Pro25=) | single nucleotide variant | ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM [RCV000014644] | Chr2:232378876 [GRCh38] Chr2:233243586 [GRCh37] Chr2:2q37.1 |
pathogenic|benign |
NM_001632.3(ALPP):c.74C>T (p.Pro25Leu) | single nucleotide variant | ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM [RCV000014646] | Chr2:232378876 [GRCh38] Chr2:233243586 [GRCh37] Chr2:2q37.1 |
pathogenic|benign |
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 | copy number loss | See cases [RCV000050304] | Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 | copy number gain | See cases [RCV000051119] | Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] | Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 | copy number loss | See cases [RCV000052637] | Chr2:226978129..236886599 [GRCh38] Chr2:227842845..237795242 [GRCh37] Chr2:227551089..237459981 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 | copy number loss | See cases [RCV000052638] | Chr2:227343278..235339168 [GRCh38] Chr2:228207994..236247812 [GRCh37] Chr2:227916238..235912551 [NCBI36] Chr2:2q36.3-37.2 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | copy number gain | See cases [RCV000052958] | Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 | copy number gain | See cases [RCV000052959] | Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] | Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] | Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 | copy number gain | See cases [RCV000052973] | Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1 | copy number loss | See cases [RCV000133712] | Chr2:231892041..232652305 [GRCh38] Chr2:232756751..233517015 [GRCh37] Chr2:232464995..233225259 [NCBI36] Chr2:2q37.1 |
pathogenic |
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 | copy number gain | See cases [RCV000134169] | Chr2:228723579..241404867 [GRCh38] Chr2:229588295..242344282 [GRCh37] Chr2:229296539..241992955 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 | copy number gain | See cases [RCV000135934] | Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 | copy number gain | See cases [RCV000136967] | Chr2:228014149..234976424 [GRCh38] Chr2:228878865..235885068 [GRCh37] Chr2:228587109..235549807 [NCBI36] Chr2:2q36.3-37.2 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 | copy number gain | See cases [RCV000142307] | Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3 | copy number gain | See cases [RCV000142606] | Chr2:232376206..232542668 [GRCh38] Chr2:233240916..233407378 [GRCh37] Chr2:232949160..233115622 [NCBI36] Chr2:2q37.1 |
benign |
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 | copy number gain | See cases [RCV000143216] | Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 | copy number loss | See cases [RCV000148260] | Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1 | copy number loss | Breast ductal adenocarcinoma [RCV000207090] | Chr2:232379030..232526243 [GRCh38] Chr2:233243739..233390952 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.1(chr2:233055165-233763272)x3 | copy number gain | See cases [RCV000447269] | Chr2:233055165..233763272 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 | copy number loss | See cases [RCV000446723] | Chr2:232215111..235593473 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
GRCh37/hg19 2q37.1(chr2:233181492-233325849) | copy number gain | Abnormal esophagus morphology [RCV000416920] | Chr2:233181492..233325849 [GRCh37] Chr2:2q37.1 |
likely benign |
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 | copy number gain | See cases [RCV000448049] | Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 | copy number gain | See cases [RCV000511816] | Chr2:222077224..239394441 [GRCh37] Chr2:2q36.1-37.3 |
pathogenic |
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 | copy number gain | See cases [RCV000512009] | Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001632.5(ALPP):c.718C>G (p.Pro240Ala) | single nucleotide variant | Inborn genetic diseases [RCV003268394] | Chr2:232380246 [GRCh38] Chr2:233244956 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 | copy number gain | not provided [RCV000682170] | Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.1(chr2:233184683-233303133)x3 | copy number gain | not provided [RCV000740950] | Chr2:233184683..233303133 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1(chr2:233201328-233310149)x1 | copy number loss | not provided [RCV000740951] | Chr2:233201328..233310149 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1(chr2:233201328-233315308)x3 | copy number gain | not provided [RCV000740952] | Chr2:233201328..233315308 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1(chr2:233204359-233310149)x3 | copy number gain | not provided [RCV000740953] | Chr2:233204359..233310149 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1(chr2:233227833-233310149)x3 | copy number gain | not provided [RCV000740954] | Chr2:233227833..233310149 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1(chr2:233242964-233294252)x3 | copy number gain | not provided [RCV000740955] | Chr2:233242964..233294252 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.528C>A (p.Ala176=) | single nucleotide variant | not provided [RCV000950388] | Chr2:232379807 [GRCh38] Chr2:233244517 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.189C>G (p.Gly63=) | single nucleotide variant | not provided [RCV000884494] | Chr2:232379083 [GRCh38] Chr2:233243793 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001632.5(ALPP):c.657C>T (p.Asp219=) | single nucleotide variant | not provided [RCV000881109] | Chr2:232379936 [GRCh38] Chr2:233244646 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.77-9C>T | single nucleotide variant | not provided [RCV000970607] | Chr2:232378962 [GRCh38] Chr2:233243672 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001632.5(ALPP):c.865+8C>T | single nucleotide variant | not provided [RCV000946696] | Chr2:232380500 [GRCh38] Chr2:233245210 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001632.5(ALPP):c.699A>G (p.Gly233=) | single nucleotide variant | not provided [RCV000946694] | Chr2:232380227 [GRCh38] Chr2:233244937 [GRCh37] Chr2:2q37.1 |
likely benign |
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 | copy number gain | See cases [RCV000790568] | Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
NM_001632.5(ALPP):c.108C>T (p.Arg36=) | single nucleotide variant | not provided [RCV000958627] | Chr2:232379002 [GRCh38] Chr2:233243712 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.993C>T (p.Phe331=) | single nucleotide variant | not provided [RCV000958628] | Chr2:232380750 [GRCh38] Chr2:233245460 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.730A>G (p.Ser244Gly) | single nucleotide variant | not provided [RCV000883698] | Chr2:232380258 [GRCh38] Chr2:233244968 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.575C>G (p.Ser192Trp) | single nucleotide variant | not provided [RCV000886161] | Chr2:232379854 [GRCh38] Chr2:233244564 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001632.5(ALPP):c.692G>C (p.Arg231Pro) | single nucleotide variant | not provided [RCV000946693] | Chr2:232380220 [GRCh38] Chr2:233244930 [GRCh37] Chr2:2q37.1 |
benign |
NM_001632.5(ALPP):c.804T>C (p.Tyr268=) | single nucleotide variant | not provided [RCV000946695] | Chr2:232380431 [GRCh38] Chr2:233245141 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001632.5(ALPP):c.109G>C (p.Glu37Gln) | single nucleotide variant | not provided [RCV000953451] | Chr2:232379003 [GRCh38] Chr2:233243713 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 | copy number loss | Chromosome 2q37 deletion syndrome [RCV001263221] | Chr2:233110452..243028452 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 | copy number gain | not provided [RCV001007519] | Chr2:230814690..242783384 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) | copy number loss | Chromosome 2q37 deletion syndrome [RCV002280739] | Chr2:233227837..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 | copy number gain | See cases [RCV001263052] | Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) | copy number loss | not specified [RCV002053291] | Chr2:228807574..235475892 [GRCh37] Chr2:2q36.3-37.1 |
pathogenic |
GRCh37/hg19 2q37.1(chr2:232215111-235593473) | copy number loss | not specified [RCV002053294] | Chr2:232215111..235593473 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) | copy number loss | not specified [RCV002053285] | Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
NC_000002.11:g.(?_233164730)_(234250992_?)dup | duplication | not provided [RCV001989941] | Chr2:233164730..234250992 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NC_000002.11:g.(?_231033840)_(234978657_?)dup | duplication | Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] | Chr2:231033840..234978657 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1283G>A (p.Arg428Gln) | single nucleotide variant | Inborn genetic diseases [RCV002860847] | Chr2:232381341 [GRCh38] Chr2:233246051 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.796G>T (p.Ala266Ser) | single nucleotide variant | Inborn genetic diseases [RCV002729742] | Chr2:232380423 [GRCh38] Chr2:233245133 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.107G>A (p.Arg36His) | single nucleotide variant | Inborn genetic diseases [RCV002752769] | Chr2:232379001 [GRCh38] Chr2:233243711 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.133G>A (p.Ala45Thr) | single nucleotide variant | Inborn genetic diseases [RCV002991273] | Chr2:232379027 [GRCh38] Chr2:233243737 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.455T>A (p.Ile152Asn) | single nucleotide variant | Inborn genetic diseases [RCV002689201] | Chr2:232379658 [GRCh38] Chr2:233244368 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.542C>T (p.Thr181Ile) | single nucleotide variant | Inborn genetic diseases [RCV002778178] | Chr2:232379821 [GRCh38] Chr2:233244531 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.799C>T (p.Arg267Trp) | single nucleotide variant | Inborn genetic diseases [RCV002687985] | Chr2:232380426 [GRCh38] Chr2:233245136 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.562C>A (p.Arg188Ser) | single nucleotide variant | Inborn genetic diseases [RCV002684371] | Chr2:232379841 [GRCh38] Chr2:233244551 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.625G>T (p.Ala209Ser) | single nucleotide variant | Inborn genetic diseases [RCV002981180] | Chr2:232379904 [GRCh38] Chr2:233244614 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.754G>A (p.Gly252Arg) | single nucleotide variant | Inborn genetic diseases [RCV003000705] | Chr2:232380282 [GRCh38] Chr2:233244992 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1588G>A (p.Glu530Lys) | single nucleotide variant | Inborn genetic diseases [RCV002788927] | Chr2:232381775 [GRCh38] Chr2:233246485 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1576C>G (p.Leu526Val) | single nucleotide variant | Inborn genetic diseases [RCV002699914] | Chr2:232381763 [GRCh38] Chr2:233246473 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1342C>T (p.Pro448Ser) | single nucleotide variant | Inborn genetic diseases [RCV002789135] | Chr2:232381529 [GRCh38] Chr2:233246239 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.554C>A (p.Thr185Lys) | single nucleotide variant | Inborn genetic diseases [RCV002826335] | Chr2:232379833 [GRCh38] Chr2:233244543 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.629C>T (p.Thr210Met) | single nucleotide variant | Inborn genetic diseases [RCV002793274] | Chr2:232379908 [GRCh38] Chr2:233244618 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.766G>A (p.Val256Met) | single nucleotide variant | Inborn genetic diseases [RCV002670396] | Chr2:232380294 [GRCh38] Chr2:233245004 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.526G>T (p.Ala176Ser) | single nucleotide variant | Inborn genetic diseases [RCV002963732] | Chr2:232379805 [GRCh38] Chr2:233244515 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.877C>A (p.Pro293Thr) | single nucleotide variant | Inborn genetic diseases [RCV002747854] | Chr2:232380634 [GRCh38] Chr2:233245344 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.527C>G (p.Ala176Gly) | single nucleotide variant | Inborn genetic diseases [RCV002963733] | Chr2:232379806 [GRCh38] Chr2:233244516 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.547G>A (p.Ala183Thr) | single nucleotide variant | Inborn genetic diseases [RCV002855190] | Chr2:232379826 [GRCh38] Chr2:233244536 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1518C>G (p.Asp506Glu) | single nucleotide variant | Inborn genetic diseases [RCV002836310] | Chr2:232381705 [GRCh38] Chr2:233246415 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1535G>A (p.Arg512Gln) | single nucleotide variant | Inborn genetic diseases [RCV002963984] | Chr2:232381722 [GRCh38] Chr2:233246432 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.376A>C (p.Lys126Gln) | single nucleotide variant | Inborn genetic diseases [RCV002679636] | Chr2:232379579 [GRCh38] Chr2:233244289 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.209C>T (p.Thr70Met) | single nucleotide variant | Inborn genetic diseases [RCV002652949] | Chr2:232379215 [GRCh38] Chr2:233243925 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.259C>A (p.Pro87Thr) | single nucleotide variant | Inborn genetic diseases [RCV003190940] | Chr2:232379265 [GRCh38] Chr2:233243975 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1589A>G (p.Glu530Gly) | single nucleotide variant | Inborn genetic diseases [RCV003183593] | Chr2:232381776 [GRCh38] Chr2:233246486 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001632.5(ALPP):c.1019G>T (p.Gly340Val) | single nucleotide variant | Inborn genetic diseases [RCV003211600] | Chr2:232380858 [GRCh38] Chr2:233245568 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.687G>A (p.Met229Ile) | single nucleotide variant | Inborn genetic diseases [RCV003210411] | Chr2:232380215 [GRCh38] Chr2:233244925 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.621C>G (p.Asp207Glu) | single nucleotide variant | Inborn genetic diseases [RCV003284388] | Chr2:232379900 [GRCh38] Chr2:233244610 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.518T>A (p.Val173Glu) | single nucleotide variant | Inborn genetic diseases [RCV003218460] | Chr2:232379797 [GRCh38] Chr2:233244507 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.442G>C (p.Gly148Arg) | single nucleotide variant | Inborn genetic diseases [RCV003189358] | Chr2:232379645 [GRCh38] Chr2:233244355 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.188G>T (p.Gly63Val) | single nucleotide variant | Inborn genetic diseases [RCV003203754] | Chr2:232379082 [GRCh38] Chr2:233243792 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3 | copy number gain | See cases [RCV003320003] | Chr2:232563726..234136887 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1565T>C (p.Leu522Pro) | single nucleotide variant | Inborn genetic diseases [RCV003345344] | Chr2:232381752 [GRCh38] Chr2:233246462 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1064T>C (p.Met355Thr) | single nucleotide variant | Inborn genetic diseases [RCV003372420] | Chr2:232380903 [GRCh38] Chr2:233245613 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.38T>C (p.Leu13Pro) | single nucleotide variant | Inborn genetic diseases [RCV003352432] | Chr2:232378840 [GRCh38] Chr2:233243550 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001632.5(ALPP):c.1292T>C (p.Val431Ala) | single nucleotide variant | Inborn genetic diseases [RCV003347457] | Chr2:232381350 [GRCh38] Chr2:233246060 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 | copy number gain | not provided [RCV003484091] | Chr2:225995545..237594511 [GRCh37] Chr2:2q36.2-37.3 |
pathogenic |
Single allele | duplication | not provided [RCV003448672] | Chr2:230077026..243049549 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 | copy number gain | not provided [RCV003484087] | Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
GDB:176648 |
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GDB:181234 |
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GDB:216786 |
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ALPP_38 |
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A002R47 |
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GDB:180439 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | 1 | 3 | 1 | |||||||||||||
Medium | 40 | 5 | 5 | 9 | 3 | 1 | 1 | 6 | 77 | 175 | 5 | 4 | ||||
Low | 51 | 3 | 14 | 7 | 52 | 7 | 149 | 7 | 13 | 18 | 203 | 520 | 2 | 1 | 2 | 1 |
Below cutoff | 723 | 585 | 517 | 114 | 746 | 80 | 873 | 383 | 1159 | 83 | 886 | 460 | 35 | 211 | 530 |
RefSeq Transcripts | NG_012189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC068134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF217992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH007074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC009647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA851165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HC006778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M12551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M14169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M14170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M19159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M19161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M19889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000392027 ⟹ ENSP00000375881 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474529 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000485563 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001632 ⟹ NP_001623 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001623 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA51705 | (Get FASTA) | NCBI Sequence Viewer |
AAA51706 | (Get FASTA) | NCBI Sequence Viewer | |
AAA51708 | (Get FASTA) | NCBI Sequence Viewer | |
AAA51709 | (Get FASTA) | NCBI Sequence Viewer | |
AAA51710 | (Get FASTA) | NCBI Sequence Viewer | |
AAC97139 | (Get FASTA) | NCBI Sequence Viewer | |
AAH09647 | (Get FASTA) | NCBI Sequence Viewer | |
AAH68501 | (Get FASTA) | NCBI Sequence Viewer | |
AAH94743 | (Get FASTA) | NCBI Sequence Viewer | |
AAY24087 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35774 | (Get FASTA) | NCBI Sequence Viewer | |
CBH19195 | (Get FASTA) | NCBI Sequence Viewer | |
EAW70991 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000375881 | ||
ENSP00000375881.2 | |||
GenBank Protein | P05187 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001623 ⟸ NM_001632 |
- Peptide Label: | preproprotein |
- UniProtKB: | Q53S78 (UniProtKB/Swiss-Prot), P06861 (UniProtKB/Swiss-Prot), P05188 (UniProtKB/Swiss-Prot), Q96DB7 (UniProtKB/Swiss-Prot), P05187 (UniProtKB/Swiss-Prot), B2R7C7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000375881 ⟸ ENST00000392027 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P05187-F1-model_v2 | AlphaFold | P05187 | 1-535 | view protein structure |
RGD ID: | 6863082 | ||||||||
Promoter ID: | EPDNEW_H4706 | ||||||||
Type: | initiation region | ||||||||
Name: | ALPP_1 | ||||||||
Description: | alkaline phosphatase, placental | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:439 | AgrOrtholog |
COSMIC | ALPP | COSMIC |
Ensembl Genes | ENSG00000163283 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000392027 | ENTREZGENE |
ENST00000392027.3 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.720.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000163283 | GTEx |
HGNC ID | HGNC:439 | ENTREZGENE |
Human Proteome Map | ALPP | Human Proteome Map |
InterPro | Alkaline_phosphatase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Alkaline_phosphatase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Alkaline_phosphatase_core_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:250 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 250 | ENTREZGENE |
OMIM | 171800 | OMIM |
PANTHER | ALKALINE PHOSPHATASE, PLACENTAL TYPE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11596 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Alk_phosphatase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA24730 | PharmGKB |
PRINTS | ALKPHPHTASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | ALKALINE_PHOSPHATASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | alkPPc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53649 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2R7C7 | ENTREZGENE, UniProtKB/TrEMBL |
P05187 | ENTREZGENE | |
P05188 | ENTREZGENE | |
P06861 | ENTREZGENE | |
PPB1_HUMAN | UniProtKB/Swiss-Prot | |
Q53S78 | ENTREZGENE | |
Q96DB7 | ENTREZGENE | |
UniProt Secondary | P05188 | UniProtKB/Swiss-Prot |
P06861 | UniProtKB/Swiss-Prot | |
Q53S78 | UniProtKB/Swiss-Prot | |
Q96DB7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-07-27 | ALPP | alkaline phosphatase, placental | ALPP | alkaline phosphatase, placental (Regan isozyme) | Symbol and/or name change | 5135510 | APPROVED |