Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | inflammatory bowel disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:37156999 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | inflammatory bowel disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:37156999 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10333475 | PMID:10448098 | PMID:11278595 | PMID:11869802 | PMID:12018390 | PMID:12062430 | PMID:12477932 | PMID:12499840 | PMID:12565890 | PMID:12761501 | PMID:12893243 | PMID:14625293 |
PMID:14690521 | PMID:14702039 | PMID:15003508 | PMID:15106847 | PMID:15489334 | PMID:15679100 | PMID:15778454 | PMID:15923660 | PMID:16169070 | PMID:16176273 | PMID:16287813 | PMID:16341594 |
PMID:16341674 | PMID:16344560 | PMID:16805830 | PMID:18029348 | PMID:18298663 | PMID:19423540 | PMID:20406964 | PMID:20438785 | PMID:21057110 | PMID:21801775 | PMID:21873635 | PMID:21900206 |
PMID:21972134 | PMID:24854535 | PMID:25416956 | PMID:29659066 | PMID:31792062 | PMID:32296183 | PMID:32393512 | PMID:33443153 | PMID:35232997 | PMID:35702822 | PMID:35831314 | PMID:37156999 |
ADAP1 (Homo sapiens - human) |
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Adap1 (Mus musculus - house mouse) |
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Adap1 (Rattus norvegicus - Norway rat) |
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Adap1 (Chinchilla lanigera - long-tailed chinchilla) |
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ADAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ADAP1 (Canis lupus familiaris - dog) |
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Adap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ADAP1 (Sus scrofa - pig) |
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ADAP1 (Chlorocebus sabaeus - green monkey) |
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Adap1 (Heterocephalus glaber - naked mole-rat) |
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Variants in ADAP1
24 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 | copy number gain | See cases [RCV000051159] | Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 | copy number loss | See cases [RCV000052253] | Chr7:54185..1843584 [GRCh38] Chr7:54185..1883220 [GRCh37] Chr7:149268..1849746 [NCBI36] Chr7:7p22.3 |
pathogenic|likely pathogenic|conflicting data from submitters |
GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 | copy number loss | See cases [RCV000052254] | Chr7:54185..1441125 [GRCh38] Chr7:54185..1480761 [GRCh37] Chr7:149268..1447287 [NCBI36] Chr7:7p22.3 |
pathogenic |
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 | copy number loss | See cases [RCV000052249] | Chr7:45130..5880375 [GRCh38] Chr7:45130..5920006 [GRCh37] Chr7:140213..5886532 [NCBI36] Chr7:7p22.3-22.1 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 | copy number gain | See cases [RCV000053527] | Chr7:45130..6270185 [GRCh38] Chr7:45130..6309816 [GRCh37] Chr7:140213..6276341 [NCBI36] Chr7:7p22.3-22.1 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 | copy number gain | See cases [RCV000053528] | Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] | Chr7:54185..8274834 [GRCh38] Chr7:54185..8314464 [GRCh37] Chr7:149268..8280989 [NCBI36] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 | copy number gain | See cases [RCV000053530] | Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
NM_001284308.1(ADAP1):c.422-6665C>T | single nucleotide variant | Lung cancer [RCV000106699] | Chr7:911837 [GRCh38] Chr7:951474 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 | copy number gain | See cases [RCV000134140] | Chr7:54185..1206119 [GRCh38] Chr7:54185..1245755 [GRCh37] Chr7:149268..1212281 [NCBI36] Chr7:7p22.3 |
uncertain significance |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 | copy number gain | See cases [RCV000136557] | Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 | copy number loss | See cases [RCV000136789] | Chr7:54185..3324143 [GRCh38] Chr7:54185..3363775 [GRCh37] Chr7:149268..3330301 [NCBI36] Chr7:7p22.3-22.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 | copy number gain | See cases [RCV000136731] | Chr7:54185..6638027 [GRCh38] Chr7:54185..6677658 [GRCh37] Chr7:149268..6644183 [NCBI36] Chr7:7p22.3-22.1 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:791215-1993065)x3 | copy number gain | See cases [RCV000136691] | Chr7:791215..1993065 [GRCh38] Chr7:830852..2032700 [GRCh37] Chr7:797378..1999226 [NCBI36] Chr7:7p22.3 |
uncertain significance |
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 | copy number gain | See cases [RCV000137524] | Chr7:45130..7252065 [GRCh38] Chr7:45130..7291696 [GRCh37] Chr7:140213..7258221 [NCBI36] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:54185-1331046)x1 | copy number loss | See cases [RCV000137163] | Chr7:54185..1331046 [GRCh38] Chr7:54185..1370682 [GRCh37] Chr7:149268..1337208 [NCBI36] Chr7:7p22.3 |
pathogenic|uncertain significance |
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 | copy number gain | See cases [RCV000137824] | Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:689554-2031521)x3 | copy number gain | See cases [RCV000138319] | Chr7:689554..2031521 [GRCh38] Chr7:729191..2071156 [GRCh37] Chr7:695717..2037682 [NCBI36] Chr7:7p22.3 |
uncertain significance |
GRCh38/hg38 7p22.3(chr7:896276-940377)x3 | copy number gain | See cases [RCV000140261] | Chr7:896276..940377 [GRCh38] Chr7:935913..980013 [GRCh37] Chr7:902439..946539 [NCBI36] Chr7:7p22.3 |
benign |
GRCh38/hg38 7p22.3(chr7:890905-945447)x3 | copy number gain | See cases [RCV000140262] | Chr7:890905..945447 [GRCh38] Chr7:930542..985083 [GRCh37] Chr7:897068..951609 [NCBI36] Chr7:7p22.3 |
benign |
GRCh38/hg38 7p22.3(chr7:890905-990730)x3 | copy number gain | See cases [RCV000140279] | Chr7:890905..990730 [GRCh38] Chr7:930542..1030366 [GRCh37] Chr7:897068..996892 [NCBI36] Chr7:7p22.3 |
benign |
GRCh38/hg38 7p22.3(chr7:866937-948487)x3 | copy number gain | See cases [RCV000140937] | Chr7:866937..948487 [GRCh38] Chr7:906574..988123 [GRCh37] Chr7:873100..954649 [NCBI36] Chr7:7p22.3 |
benign |
GRCh38/hg38 7p22.3(chr7:896276-1022380)x3 | copy number gain | See cases [RCV000140941] | Chr7:896276..1022380 [GRCh38] Chr7:935913..1062016 [GRCh37] Chr7:902439..1028542 [NCBI36] Chr7:7p22.3 |
benign |
GRCh38/hg38 7p22.3(chr7:890905-948487)x3 | copy number gain | See cases [RCV000140943] | Chr7:890905..948487 [GRCh38] Chr7:930542..988123 [GRCh37] Chr7:897068..954649 [NCBI36] Chr7:7p22.3 |
conflicting data from submitters |
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 | copy number loss | See cases [RCV000142995] | Chr7:54165..3258775 [GRCh38] Chr7:54165..3298407 [GRCh37] Chr7:149248..3264933 [NCBI36] Chr7:7p22.3-22.2 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 | copy number loss | See cases [RCV000143341] | Chr7:45130..1298050 [GRCh38] Chr7:45130..1337686 [GRCh37] Chr7:140213..1304212 [NCBI36] Chr7:7p22.3 |
uncertain significance |
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 | copy number gain | See cases [RCV000143175] | Chr7:45130..3406236 [GRCh38] Chr7:45130..3445868 [GRCh37] Chr7:140213..3412394 [NCBI36] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 | copy number gain | See cases [RCV000143586] | Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 | copy number loss | See cases [RCV000148193] | Chr7:54185..1843584 [GRCh38] Chr7:54185..1883220 [GRCh37] Chr7:149268..1849746 [NCBI36] Chr7:7p22.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 | copy number gain | See cases [RCV000449281] | Chr7:43360..5443709 [GRCh37] Chr7:7p22.3-22.1 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 | copy number gain | See cases [RCV000449446] | Chr7:183556..12746636 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 | copy number gain | See cases [RCV000449347] | Chr7:43360..17656861 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:960405-1025934)x3 | copy number gain | See cases [RCV000446334] | Chr7:960405..1025934 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 | copy number gain | See cases [RCV000447222] | Chr7:43360..2825753 [GRCh37] Chr7:7p22.3-22.2 |
likely pathogenic |
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 | copy number gain | See cases [RCV000510652] | Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3 |
pathogenic |
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 | copy number gain | See cases [RCV000510275] | Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 | copy number loss | See cases [RCV000511648] | Chr7:43360..3642604 [GRCh37] Chr7:7p22.3-22.2 |
pathogenic |
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 | copy number gain | See cases [RCV000511772] | Chr7:43360..14664158 [GRCh37] Chr7:7p22.3-21.2 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 | copy number gain | See cases [RCV000510950] | Chr7:43360..12098696 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
NM_006869.4(ADAP1):c.77C>T (p.Ala26Val) | single nucleotide variant | Inborn genetic diseases [RCV003251451] | Chr7:954401 [GRCh38] Chr7:994037 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 | copy number gain | See cases [RCV000512505] | Chr7:43360..11567351 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:43360-2057743)x1 | copy number loss | See cases [RCV000512381] | Chr7:43360..2057743 [GRCh37] Chr7:7p22.3 |
likely pathogenic |
GRCh37/hg19 7p22.3(chr7:967185-1261141)x3 | copy number gain | not provided [RCV000682817] | Chr7:967185..1261141 [GRCh37] Chr7:7p22.3 |
likely benign |
GRCh37/hg19 7p22.3(chr7:989696-1540461)x3 | copy number gain | not provided [RCV000682854] | Chr7:989696..1540461 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:993881-1142977)x3 | copy number gain | not provided [RCV000746312] | Chr7:993881..1142977 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 | copy number gain | not provided [RCV000746277] | Chr7:10239..13116278 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:916660-1034717)x3 | copy number gain | not provided [RCV000746288] | Chr7:916660..1034717 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:933420-1034717)x3 | copy number gain | not provided [RCV000746290] | Chr7:933420..1034717 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:933420-1034903)x3 | copy number gain | not provided [RCV000746291] | Chr7:933420..1034903 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:971124-994065)x1 | copy number loss | not provided [RCV000746292] | Chr7:971124..994065 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:973131-994065)x1 | copy number loss | not provided [RCV000746293] | Chr7:973131..994065 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:973235-993585)x1 | copy number loss | not provided [RCV000746294] | Chr7:973235..993585 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:973443-994118)x1 | copy number loss | not provided [RCV000746295] | Chr7:973443..994118 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976725-982625)x1 | copy number loss | not provided [RCV000746296] | Chr7:976725..982625 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976725-1103697)x1 | copy number loss | not provided [RCV000746297] | Chr7:976725..1103697 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976872-982625)x1 | copy number loss | not provided [RCV000746298] | Chr7:976872..982625 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976872-994118)x1 | copy number loss | not provided [RCV000746299] | Chr7:976872..994118 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976925-982625)x1 | copy number loss | not provided [RCV000746300] | Chr7:976925..982625 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976925-994118)x1 | copy number loss | not provided [RCV000746301] | Chr7:976925..994118 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976925-1102241)x1 | copy number loss | not provided [RCV000746302] | Chr7:976925..1102241 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:976925-1105426)x1 | copy number loss | not provided [RCV000746303] | Chr7:976925..1105426 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:977027-994118)x1 | copy number loss | not provided [RCV000746304] | Chr7:977027..994118 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:977239-1003047)x1 | copy number loss | not provided [RCV000746305] | Chr7:977239..1003047 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:977307-994065)x1 | copy number loss | not provided [RCV000746306] | Chr7:977307..994065 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:977307-1024581)x1 | copy number loss | not provided [RCV000746307] | Chr7:977307..1024581 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:982200-994420)x1 | copy number loss | not provided [RCV000746308] | Chr7:982200..994420 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:993173-994065)x1 | copy number loss | not provided [RCV000746309] | Chr7:993173..994065 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:993173-1034717)x3 | copy number gain | not provided [RCV000746310] | Chr7:993173..1034717 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:993173-1130584)x3 | copy number gain | not provided [RCV000746311] | Chr7:993173..1130584 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3(chr7:869147-1438686)x1 | copy number loss | See cases [RCV000790603] | Chr7:869147..1438686 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1 | copy number loss | See cases [RCV001007408] | Chr7:44935..1750797 [GRCh37] Chr7:7p22.3 |
pathogenic |
NM_006869.4(ADAP1):c.389-8C>G | single nucleotide variant | not provided [RCV000954931] | Chr7:905180 [GRCh38] Chr7:944817 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 | copy number gain | not provided [RCV000848100] | Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:43360-1648288)x1 | copy number loss | not provided [RCV001005888] | Chr7:43360..1648288 [GRCh37] Chr7:7p22.3 |
pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 | copy number loss | not provided [RCV000849273] | Chr7:36616..4298168 [GRCh37] Chr7:7p22.3-22.2 |
pathogenic |
NM_006869.4(ADAP1):c.306G>C (p.Gln102His) | single nucleotide variant | Inborn genetic diseases [RCV003292735] | Chr7:920050 [GRCh38] Chr7:959687 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.921G>A (p.Thr307=) | single nucleotide variant | not provided [RCV000956447] | Chr7:899208 [GRCh38] Chr7:938845 [GRCh37] Chr7:7p22.3 |
benign |
Single allele | complex | Ring chromosome 7 [RCV002280646] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:967185-1781553)x3 | copy number gain | not provided [RCV001259996] | Chr7:967185..1781553 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:989697-2138529)x3 | copy number gain | not provided [RCV001833076] | Chr7:989697..2138529 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NC_000007.13:g.(?_193200)_(1498962_?)del | deletion | not provided [RCV003119969] | Chr7:193200..1498962 [GRCh37] Chr7:7p22.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 | copy number gain | See cases [RCV002287567] | Chr7:43360..19485604 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 | copy number loss | See cases [RCV002287832] | Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 | copy number gain | See cases [RCV002292426] | Chr7:43360..9649794 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
NM_006869.4(ADAP1):c.896T>C (p.Ile299Thr) | single nucleotide variant | Inborn genetic diseases [RCV003281995] | Chr7:899233 [GRCh38] Chr7:938870 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.991G>A (p.Asp331Asn) | single nucleotide variant | Inborn genetic diseases [RCV002860067] | Chr7:899138 [GRCh38] Chr7:938775 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.727G>A (p.Ala243Thr) | single nucleotide variant | Inborn genetic diseases [RCV002883307] | Chr7:900538 [GRCh38] Chr7:940175 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.415C>T (p.Arg139Cys) | single nucleotide variant | Inborn genetic diseases [RCV002925689] | Chr7:905146 [GRCh38] Chr7:944783 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.568G>A (p.Gly190Ser) | single nucleotide variant | Inborn genetic diseases [RCV002976877] | Chr7:904206 [GRCh38] Chr7:943843 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.491A>G (p.Asn164Ser) | single nucleotide variant | Inborn genetic diseases [RCV002854045] | Chr7:905070 [GRCh38] Chr7:944707 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.242C>T (p.Ala81Val) | single nucleotide variant | Inborn genetic diseases [RCV002964710] | Chr7:926616 [GRCh38] Chr7:966252 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.523A>G (p.Met175Val) | single nucleotide variant | Inborn genetic diseases [RCV003212705] | Chr7:904251 [GRCh38] Chr7:943888 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.377C>T (p.Pro126Leu) | single nucleotide variant | Inborn genetic diseases [RCV003195359] | Chr7:919979 [GRCh38] Chr7:959616 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.394C>T (p.Arg132Cys) | single nucleotide variant | Inborn genetic diseases [RCV003308733] | Chr7:905167 [GRCh38] Chr7:944804 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_006869.4(ADAP1):c.446G>A (p.Arg149Gln) | single nucleotide variant | Inborn genetic diseases [RCV003368802] | Chr7:905115 [GRCh38] Chr7:944752 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 | copy number gain | not provided [RCV003484665] | Chr7:43361..8890475 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 | copy number gain | not provided [RCV003484666] | Chr7:43361..5965440 [GRCh37] Chr7:7p22.3-22.1 |
pathogenic |
NM_006869.4(ADAP1):c.234C>T (p.Asn78=) | single nucleotide variant | not provided [RCV003423493] | Chr7:926624 [GRCh38] Chr7:966260 [GRCh37] Chr7:7p22.3 |
likely benign |
GRCh37/hg19 7p22.3(chr7:704573-941737)x3 | copy number gain | not provided [RCV003484668] | Chr7:704573..941737 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:967186-1152455)x1 | copy number loss | not provided [RCV003482944] | Chr7:967186..1152455 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:43360-2020306)x1 | copy number loss | not specified [RCV003986688] | Chr7:43360..2020306 [GRCh37] Chr7:7p22.3 |
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. |
D7S2474 |
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SHGC-151230 |
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SHGC-146699 |
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HSC231_(nt989926) |
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GDB:1318184 |
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STS-R20738 |
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GDB:3778207 |
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D7S2474 |
|
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 | ||||||||||||||||
Medium | 1948 | 661 | 201 | 21 | 1107 | 25 | 631 | 844 | 3237 | 88 | 164 | 525 | 6 | 7 | 622 | |
Low | 479 | 2307 | 1450 | 535 | 737 | 373 | 2976 | 614 | 448 | 306 | 1258 | 1053 | 164 | 1196 | 1451 | 1 |
Below cutoff | 7 | 15 | 72 | 66 | 84 | 67 | 743 | 728 | 24 | 22 | 25 | 27 | 1 | 712 | 2 |
RefSeq Transcripts | NM_001284308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001284309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001284310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001284311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_006869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB097049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC073957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF082324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI910700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ006422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK124979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300644 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC033747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG716328 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM837987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH236965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR975507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA872042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF511054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000265846 ⟹ ENSP00000265846 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000435943 ⟹ ENSP00000394973 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000437486 ⟹ ENSP00000404217 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000446141 ⟹ ENSP00000414436 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000449296 ⟹ ENSP00000407267 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000453175 ⟹ ENSP00000409129 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000453823 ⟹ ENSP00000416545 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000454383 ⟹ ENSP00000391315 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000463358 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000477906 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000478000 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000481406 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000488527 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000495686 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000495809 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000539900 ⟹ ENSP00000442682 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000611167 ⟹ ENSP00000481154 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000617043 ⟹ ENSP00000478011 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000649206 ⟹ ENSP00000497220 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001284308 ⟹ NP_001271237 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001284309 ⟹ NP_001271238 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001284310 ⟹ NP_001271239 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001284311 ⟹ NP_001271240 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_006869 ⟹ NP_006860 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
Protein RefSeqs | NP_001271237 | (Get FASTA) | NCBI Sequence Viewer |
NP_001271238 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001271239 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001271240 | (Get FASTA) | NCBI Sequence Viewer | |
NP_006860 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD11414 | (Get FASTA) | NCBI Sequence Viewer |
AAH33747 | (Get FASTA) | NCBI Sequence Viewer | |
BAC77402 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83206 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52556 | (Get FASTA) | NCBI Sequence Viewer | |
BAG54118 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62332 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62509 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62618 | (Get FASTA) | NCBI Sequence Viewer | |
CAA07024 | (Get FASTA) | NCBI Sequence Viewer | |
EAL23709 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87182 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87183 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87184 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000265846 | ||
ENSP00000265846.5 | |||
ENSP00000391315.1 | |||
ENSP00000394973.1 | |||
ENSP00000404217.1 | |||
ENSP00000407267 | |||
ENSP00000407267.2 | |||
ENSP00000409129.2 | |||
ENSP00000414436.1 | |||
ENSP00000416545.1 | |||
ENSP00000442682 | |||
ENSP00000442682.1 | |||
ENSP00000478011 | |||
ENSP00000478011.1 | |||
ENSP00000481154 | |||
ENSP00000481154.1 | |||
ENSP00000497220.1 | |||
GenBank Protein | O75689 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006860 ⟸ NM_006869 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75689 (UniProtKB/Swiss-Prot), F6XZ68 (UniProtKB/Swiss-Prot), B4DVA6 (UniProtKB/Swiss-Prot), B3KRZ4 (UniProtKB/Swiss-Prot), A4D2Q2 (UniProtKB/Swiss-Prot), H7C2Q4 (UniProtKB/Swiss-Prot), A0A3B3ISA7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001271237 ⟸ NM_001284308 |
- Peptide Label: | isoform 2 |
- Sequence: |
RefSeq Acc Id: | NP_001271238 ⟸ NM_001284309 |
- Peptide Label: | isoform 3 |
- UniProtKB: | B4DUZ7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001271239 ⟸ NM_001284310 |
- Peptide Label: | isoform 3 |
- Sequence: |
RefSeq Acc Id: | NP_001271240 ⟸ NM_001284311 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A087WTN6 (UniProtKB/TrEMBL), B4DUZ7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000497220 ⟸ ENST00000649206 |
RefSeq Acc Id: | ENSP00000416545 ⟸ ENST00000453823 |
RefSeq Acc Id: | ENSP00000409129 ⟸ ENST00000453175 |
RefSeq Acc Id: | ENSP00000481154 ⟸ ENST00000611167 |
RefSeq Acc Id: | ENSP00000391315 ⟸ ENST00000454383 |
RefSeq Acc Id: | ENSP00000478011 ⟸ ENST00000617043 |
RefSeq Acc Id: | ENSP00000414436 ⟸ ENST00000446141 |
RefSeq Acc Id: | ENSP00000442682 ⟸ ENST00000539900 |
RefSeq Acc Id: | ENSP00000407267 ⟸ ENST00000449296 |
RefSeq Acc Id: | ENSP00000394973 ⟸ ENST00000435943 |
RefSeq Acc Id: | ENSP00000265846 ⟸ ENST00000265846 |
RefSeq Acc Id: | ENSP00000404217 ⟸ ENST00000437486 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O75689-F1-model_v2 | AlphaFold | O75689 | 1-374 | view protein structure |
RGD ID: | 7209751 | ||||||||
Promoter ID: | EPDNEW_H10622 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | ADAP1_6 | ||||||||
Description: | ArfGAP with dual PH domains 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10623 EPDNEW_H10624 EPDNEW_H10625 EPDNEW_H10626 EPDNEW_H10627 EPDNEW_H10628 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6805201 | ||||||||
Promoter ID: | HG_KWN:55933 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562 | ||||||||
Transcripts: | OTTHUMT00000322733 | ||||||||
Position: |
|
RGD ID: | 7209755 | ||||||||
Promoter ID: | EPDNEW_H10623 | ||||||||
Type: | initiation region | ||||||||
Name: | ADAP1_5 | ||||||||
Description: | ArfGAP with dual PH domains 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10622 EPDNEW_H10624 EPDNEW_H10625 EPDNEW_H10626 EPDNEW_H10627 EPDNEW_H10628 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6805207 | ||||||||
Promoter ID: | HG_KWN:55934 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000322743 | ||||||||
Position: |
|
RGD ID: | 6805206 | ||||||||
Promoter ID: | HG_KWN:55935 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000322742, UC003SJM.2 | ||||||||
Position: |
|
RGD ID: | 7209757 | ||||||||
Promoter ID: | EPDNEW_H10624 | ||||||||
Type: | initiation region | ||||||||
Name: | ADAP1_7 | ||||||||
Description: | ArfGAP with dual PH domains 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10622 EPDNEW_H10623 EPDNEW_H10625 EPDNEW_H10626 EPDNEW_H10627 EPDNEW_H10628 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7209759 | ||||||||
Promoter ID: | EPDNEW_H10625 | ||||||||
Type: | initiation region | ||||||||
Name: | ADAP1_4 | ||||||||
Description: | ArfGAP with dual PH domains 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10622 EPDNEW_H10623 EPDNEW_H10624 EPDNEW_H10626 EPDNEW_H10627 EPDNEW_H10628 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6805205 | ||||||||
Promoter ID: | HG_KWN:55936 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000322741 | ||||||||
Position: |
|
RGD ID: | 6805204 | ||||||||
Promoter ID: | HG_KWN:55937 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000322740 | ||||||||
Position: |
|
RGD ID: | 6805203 | ||||||||
Promoter ID: | HG_KWN:55938 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000322738, OTTHUMT00000322739, UC003SJN.2 | ||||||||
Position: |
|
RGD ID: | 7209761 | ||||||||
Promoter ID: | EPDNEW_H10626 | ||||||||
Type: | initiation region | ||||||||
Name: | ADAP1_3 | ||||||||
Description: | ArfGAP with dual PH domains 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10622 EPDNEW_H10623 EPDNEW_H10624 EPDNEW_H10625 EPDNEW_H10627 EPDNEW_H10628 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6805202 | ||||||||
Promoter ID: | HG_KWN:55940 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000322736 | ||||||||
Position: |
|
RGD ID: | 7209763 | ||||||||
Promoter ID: | EPDNEW_H10627 | ||||||||
Type: | initiation region | ||||||||
Name: | ADAP1_1 | ||||||||
Description: | ArfGAP with dual PH domains 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10622 EPDNEW_H10623 EPDNEW_H10624 EPDNEW_H10625 EPDNEW_H10626 EPDNEW_H10628 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6805200 | ||||||||
Promoter ID: | HG_KWN:55941 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000059701 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:16486 | AgrOrtholog |
COSMIC | ADAP1 | COSMIC |
Ensembl Genes | ENSG00000105963 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000265846 | ENTREZGENE |
ENST00000265846.10 | UniProtKB/Swiss-Prot | |
ENST00000435943.1 | UniProtKB/TrEMBL | |
ENST00000437486.5 | UniProtKB/TrEMBL | |
ENST00000446141.5 | UniProtKB/TrEMBL | |
ENST00000449296 | ENTREZGENE | |
ENST00000449296.6 | UniProtKB/Swiss-Prot | |
ENST00000453175.6 | UniProtKB/TrEMBL | |
ENST00000453823.5 | UniProtKB/TrEMBL | |
ENST00000454383.5 | UniProtKB/TrEMBL | |
ENST00000539900 | ENTREZGENE | |
ENST00000539900.5 | UniProtKB/Swiss-Prot | |
ENST00000611167 | ENTREZGENE | |
ENST00000611167.4 | UniProtKB/Swiss-Prot | |
ENST00000617043 | ENTREZGENE | |
ENST00000617043.4 | UniProtKB/TrEMBL | |
ENST00000649206.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.220.150 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000105963 | GTEx |
HGNC ID | HGNC:16486 | ENTREZGENE |
Human Proteome Map | ADAP1 | Human Proteome Map |
InterPro | ARFGAP/RecO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ArfGAP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ArfGAP_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH1_ADAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH2_ADAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:11033 | UniProtKB/Swiss-Prot |
NCBI Gene | 11033 | ENTREZGENE |
OMIM | 608114 | OMIM |
PANTHER | ARF-GAP WITH DUAL PH DOMAIN-CONTAINING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ARF-GAP WITH DUAL PH DOMAIN-CONTAINING PROTEIN 1-LIKE PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ArfGap | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PF00169 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA26404 | PharmGKB |
PRINTS | REVINTRACTNG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | ARFGAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PH_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | ArfGap | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SM00233 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF57863 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087WTN6 | ENTREZGENE, UniProtKB/TrEMBL |
A0A3B3ISA7 | ENTREZGENE, UniProtKB/TrEMBL | |
A4D2Q2 | ENTREZGENE | |
A8K3A2_HUMAN | UniProtKB/TrEMBL | |
ADAP1_HUMAN | UniProtKB/Swiss-Prot | |
B3KRZ4 | ENTREZGENE | |
B4DUZ7 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DVA6 | ENTREZGENE | |
C9JN36_HUMAN | UniProtKB/TrEMBL | |
F6XZ68 | ENTREZGENE | |
H0Y7Q1_HUMAN | UniProtKB/TrEMBL | |
H7BZT6_HUMAN | UniProtKB/TrEMBL | |
H7C264_HUMAN | UniProtKB/TrEMBL | |
H7C2Q4 | ENTREZGENE | |
H7C324_HUMAN | UniProtKB/TrEMBL | |
H7C4B3_HUMAN | UniProtKB/TrEMBL | |
O75689 | ENTREZGENE | |
UniProt Secondary | A4D2Q2 | UniProtKB/Swiss-Prot |
B3KRZ4 | UniProtKB/Swiss-Prot | |
B4DVA6 | UniProtKB/Swiss-Prot | |
F6XZ68 | UniProtKB/Swiss-Prot | |
H7C2Q4 | UniProtKB/Swiss-Prot |