AutismKB 2.0

Annotation Detail for COL7A1


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Basic Information Top
Gene Symbol:COL7A1 ( EBD1,EBDCT,EBR1 )
Gene Full Name: collagen, type VII, alpha 1
Band: 3p21.31
Quick LinksEntrez ID:1294; OMIM: 120120; Uniprot ID:CO7A1_HUMAN; ENSEMBL ID: ENSG00000114270; HGNC ID: 2214
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
337N-linked (GlcNAc...) (Potential).
786N-linked (GlcNAc...) (Potential).
1109N-linked (GlcNAc...) (Potential).
1172Cell attachment site (Potential).
1336Cell attachment site (Potential).
2010Cell attachment site (Potential).
21674-hydroxyproline.
21764-hydroxyproline.
21854-hydroxyproline.
21884-hydroxyproline.
2555Cell attachment site (Potential).
2625O-linked (Gal...).
26255-hydroxylysine.
26315-hydroxylysine.
2631O-linked (Gal...).
26644-hydroxyproline.
26674-hydroxyproline.
26734-hydroxyproline.
Location(AA) Modifications Resource
337N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
786N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1109N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
21674-hydroxyproline.Swiss-Prot 53.0
21764-hydroxyproline.Swiss-Prot 53.0
21854-hydroxyproline.Swiss-Prot 53.0
21884-hydroxyproline.Swiss-Prot 53.0
2625O-linked (Gal...).Swiss-Prot 53.0
26255-hydroxylysine.Swiss-Prot 53.0
26315-hydroxylysine.Swiss-Prot 53.0
2631O-linked (Gal...).Swiss-Prot 53.0
26644-hydroxyproline.Swiss-Prot 53.0
26674-hydroxyproline.Swiss-Prot 53.0
26734-hydroxyproline.Swiss-Prot 53.0
Location(AA) Modification Resource
188Phosphoserine(CAMK2)HMM predict
233Phosphoserine(CK1)HMM predict
241Phosphoserine(CK1)HMM predict
245Phosphoserine(ATM)HMM predict
337N-linkedHMM predict
338O-linkedHMM predict
364O-linkedHMM predict
402O-linkedHMM predict
420Phosphothreonine(PKC)HMM predict
498O-linkedHMM predict
509Phosphoserine(MAPK)HMM predict
527Phosphoserine(PKG)HMM predict
576Phosphoserine(PKG)HMM predict
590Phosphothreonine(PKC)HMM predict
597Phosphothreonine(MAPK)HMM predict
635O-linkedHMM predict
640Phosphoserine(ATM)HMM predict
648O-linkedHMM predict
661Phosphotyrosine(SRC)HMM predict
695O-linkedHMM predict
698O-linkedHMM predict
701Phosphoserine(CK1)HMM predict
701Phosphoserine(IKK)HMM predict
703O-linkedHMM predict
728Phosphoserine(ATM)HMM predict
786N-linkedHMM predict
857O-linkedHMM predict
862O-linkedHMM predict
935Phosphoserine(PKG)HMM predict
945O-linkedHMM predict
954Phosphoserine(CDC2)HMM predict
980O-linkedHMM predict
983O-linkedHMM predict
984Phosphoserine(PKB)HMM predict
1002O-linkedHMM predict
1002Phosphoserine(CDC2)HMM predict
1012Phosphoserine(ATM)HMM predict
1045Phosphothreonine(CDC2)HMM predict
1103Phosphoserine(CDC2)HMM predict
1103Phosphoserine(CDK)HMM predict
1109N-linkedHMM predict
1126Phosphotyrosine(Syk)HMM predict
1256O-linkedHMM predict
1280O-linkedHMM predict
1295O-linkedHMM predict
1309Phosphoserine(CDC2)HMM predict
1312MethylarginineHMM predict
1325O-linkedHMM predict
1327O-linkedHMM predict
1346O-linkedHMM predict
1367O-linkedHMM predict
1373O-linkedHMM predict
1399O-linkedHMM predict
1402O-linkedHMM predict
1405MethylarginineHMM predict
1431O-linkedHMM predict
1431Phosphoserine(CDC2)HMM predict
1443O-linkedHMM predict
1444O-linkedHMM predict
1447O-linkedHMM predict
1463Phosphoserine(CDC2)HMM predict
1463Phosphoserine(IKK)HMM predict
1470MethylarginineHMM predict
1479O-linkedHMM predict
1494O-linkedHMM predict
1505O-linkedHMM predict
1505O-linkedHMM predict
1506MethylarginineHMM predict
1518O-linkedHMM predict
1527O-linkedHMM predict
1529MethylarginineHMM predict
1533O-linkedHMM predict
1553O-linkedHMM predict
1556O-linkedHMM predict
1565MethylarginineHMM predict
1568O-linkedHMM predict
1588O-linkedHMM predict
1600O-linkedHMM predict
1609O-linkedHMM predict
1615O-linkedHMM predict
1630MethylarginineHMM predict
1632MethylarginineHMM predict
1639O-linkedHMM predict
1672O-linkedHMM predict
1684N-linkedHMM predict
1686Phosphoserine(CAMK2)HMM predict
1686Phosphoserine(CDC2)HMM predict
1686Phosphoserine(IKK)HMM predict
1686PhosphoserineHMM predict
1690O-linkedHMM predict
1690Phosphoserine(ATM)HMM predict
1693O-linkedHMM predict
1696MethylarginineHMM predict
1718O-linkedHMM predict
1724MethylarginineHMM predict
1733O-linkedHMM predict
1769O-linkedHMM predict
1781O-linkedHMM predict
1793O-linkedHMM predict
1793O-linkedHMM predict
1823O-linkedHMM predict
1823O-linkedHMM predict
1856O-linkedHMM predict
1859O-linkedHMM predict
1862O-linkedHMM predict
1867MethylarginineHMM predict
1874O-linkedHMM predict
1912O-linkedHMM predict
1915MethylarginineHMM predict
1918O-linkedHMM predict
1920O-linkedHMM predict
1921O-linkedHMM predict
1933MethylarginineHMM predict
1981O-linkedHMM predict
1984O-linkedHMM predict
2005O-linkedHMM predict
2030O-linkedHMM predict
2066O-linkedHMM predict
2083O-linkedHMM predict
2083Phosphothreonine(CDC2)HMM predict
2093O-linkedHMM predict
2104O-linkedHMM predict
2104Phosphoserine(ATM)HMM predict
2113O-linkedHMM predict
2116O-linkedHMM predict
2128O-linkedHMM predict
2131MethylarginineHMM predict
2137O-linkedHMM predict
2140MethylarginineHMM predict
2146MethylarginineHMM predict
2173MethylarginineHMM predict
2203O-linkedHMM predict
2206O-linkedHMM predict
2212O-linkedHMM predict
2223O-linkedHMM predict
2235O-linkedHMM predict
2235O-linkedHMM predict
2243O-linkedHMM predict
2253O-linkedHMM predict
2265O-linkedHMM predict
2279O-linkedHMM predict
2279Phosphoserine(CDC2)HMM predict
2289O-linkedHMM predict
2295O-linkedHMM predict
2309O-linkedHMM predict
2312O-linkedHMM predict
2329O-linkedHMM predict
2332MethylarginineHMM predict
2341O-linkedHMM predict
2359O-linkedHMM predict
2365O-linkedHMM predict
2368O-linkedHMM predict
2378O-linkedHMM predict
2378Phosphoserine(CDC2)HMM predict
2378Phosphoserine(CDK)HMM predict
2378Phosphoserine(ATM)HMM predict
2388O-linkedHMM predict
2409O-linkedHMM predict
2412MethylarginineHMM predict
2421O-linkedHMM predict
2447O-linkedHMM predict
2447Phosphoserine(ATM)HMM predict
2454O-linkedHMM predict
2457O-linkedHMM predict
2460O-linkedHMM predict
2495O-linkedHMM predict
2500O-linkedHMM predict
2501MethylarginineHMM predict
2507O-linkedHMM predict
2516O-linkedHMM predict
2519O-linkedHMM predict
2535O-linkedHMM predict
2550O-linkedHMM predict
2562O-linkedHMM predict
2564O-linkedHMM predict
2565O-linkedHMM predict
2571O-linkedHMM predict
2573O-linkedHMM predict
2613O-linkedHMM predict
2625O-linkedHMM predict
2631O-linkedHMM predict
2640O-linkedHMM predict
2643O-linkedHMM predict
2651MethylarginineHMM predict
2658O-linkedHMM predict
2670O-linkedHMM predict
2682O-linkedHMM predict
2694O-linkedHMM predict
2700O-linkedHMM predict
2705O-linkedHMM predict
2715O-linkedHMM predict
2720O-linkedHMM predict
2729O-linkedHMM predict
2742O-linkedHMM predict
2780O-linkedHMM predict
2786Phosphothreonine(PKC)HMM predict
2786Phosphothreonine(CK2)HMM predict
2852Phosphotyrosine(INSR)HMM predict
2852Phosphotyrosine(SRC)HMM predict
2852Phosphotyrosine(Syk)HMM predict
2852SulfotyrosineHMM predict
2853Phosphoserine(CK1)HMM predict
2853Phosphoserine(CK2)HMM predict
2858Phosphotyrosine(INSR)HMM predict
2859Phosphoserine(CK1)HMM predict
2863Phosphotyrosine(INSR)HMM predict
2863Phosphotyrosine(Syk)HMM predict
2863SulfotyrosineHMM predict
2877Phosphoserine(MAPK)HMM predict
2929CysteineHMM predict
2933ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000094
  • Location:chr3 48576509-48607688
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48608499 48608647 148 885
Fos K562GSE19551 48607862 48608531 669 508
TFAP2C MCF7GSE21234 48607905 48608732 827 630
p130 QuiescentGSE19898 48607736 48607935 199 147
p130 QuiescentGSE19898 48608036 48608222 186 441
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48576555 48577450 895 0
CTCF G2GSE9613 48577798 48578544 746 0
CTCF G2GSE9613 48578853 48579344 491 0
CTCF G2GSE9613 48579826 48580264 438 0
CTCF G2GSE9613 48581082 48581417 335 0
CTCF G2GSE9613 48582470 48583581 1111 0
CTCF G2GSE9613 48584009 48584949 940 0
CTCF G2GSE9613 48585789 48586192 403 0
CTCF G2GSE9613 48586743 48587164 421 0
CTCF G2GSE9613 48587465 48588360 895 0
CTCF G2GSE9613 48591409 48592179 770 0
CTCF G2GSE9613 48592559 48592835 276 0
CTCF G2GSE9613 48594245 48595389 1144 0
CTCF G2GSE9613 48597179 48597600 421 0
CTCF G2GSE9613 48598508 48599822 1314 0
CTCF G2GSE9613 48600556 48602170 1614 0
CTCF G2GSE9613 48602472 48604678 2206 0
CTCF G2GSE9613 48606645 48606975 330 0
CTCF G2GSE9613 48607262 48607975 713 0
hScc1 BcellGSE12603 48587669 48589046 1377 0
hScc1 BcellGSE12603 48600585 48601144 559 0
hScc1 BcellGSE12603 48604014 48604752 738 0
hScc1 BcellGSE12603 48607371 48608003 632 0
hScc1 G2GSE9613 48582572 48583496 924 0
hScc1 G2GSE9613 48584009 48584793 784 0
hScc1 G2GSE9613 48601179 48601530 351 0
p130 shRbQuiescentGSE19898 48606691 48607125 434 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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