AutismKB 2.0

Annotation Detail for CLCN7


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Basic Information Top
Gene Symbol:CLCN7 ( CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4 )
Gene Full Name: chloride channel 7
Band: 16p13.3
Quick LinksEntrez ID:1186; OMIM: 602727; Uniprot ID:CLCN7_HUMAN; ENSEMBL ID: ENSG00000103249; HGNC ID: 2025
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
9Phosphoserine.
60Phosphoserine.
61Phosphoserine.
207Selectivity filter part_1 (By
249Selectivity filter part_2 (By
516Selectivity filter part_3 (By
Location(AA) Modifications Resource
9Phosphoserine.Swiss-Prot 53.0
60Phosphoserine.Swiss-Prot 53.0
61Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphoserine(CAMK2)HMM predict
34Phosphothreonine(CDK)HMM predict
99SulfotyrosineHMM predict
99Phosphotyrosine(Jak)HMM predict
99Phosphotyrosine(INSR)HMM predict
115N-linkedHMM predict
226Phosphothreonine(PKC)HMM predict
232O-linkedHMM predict
262Phosphoserine(ATM)HMM predict
283Phosphothreonine(PKA)HMM predict
283Phosphothreonine(PKC)HMM predict
370Phosphotyrosine(Jak)HMM predict
426O-linkedHMM predict
459Phosphotyrosine(INSR)HMM predict
547Phosphotyrosine(INSR)HMM predict
576N-linkedHMM predict
652Phosphoserine(CK1)HMM predict
715Phosphotyrosine(EGFR)HMM predict
727Phosphoserine(ATM)HMM predict
742N-linkedHMM predict
744O-linkedHMM predict
746Phosphotyrosine(Abl)HMM predict
783Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001287
  • Location:chr16 1435345-1465012
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 1464451 1465696 1245 61
Fos K562GSE19551 1464743 1465414 671 66
Myc hESGSE17917 1465018 1465281 263 137
P300 T0-glioblastomaGSE21026 1464919 1465310 391 102
PHF8 HeLaGSE20725 1464146 1465957 1811 39
PHF8 Hs68minusFBSGSE20725 1464763 1465810 1047 274
p130 QuiescentGSE19898 1464941 1465129 188 23
p130 SenescentGSE19898 1464903 1465293 390 86
p130 shRbQuiescentGSE19898 1464916 1465262 346 77
p130 shRbSenescentGSE19898 1464967 1465314 347 128
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1427496 1427797 301 7699
CTCF G2GSE9613 1429424 1429698 274 5785
CTCF G2GSE9613 1432349 1432743 394 2800
CTCF G2GSE9613 1433055 1433822 767 1907
hScc1 BcellGSE12603 1433226 1433788 562 1839
hScc1 BcellGSE12603 1434422 1434877 455 696
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1435381 1435763 382 0
CTCF G2GSE9613 1437118 1437344 226 0
CTCF G2GSE9613 1437790 1438222 432 0
CTCF G2GSE9613 1438531 1438883 352 0
CTCF G2GSE9613 1439199 1440698 1499 0
CTCF G2GSE9613 1442089 1442969 880 0
CTCF G2GSE9613 1445272 1446529 1257 0
CTCF G2GSE9613 1449335 1450865 1530 0
CTCF G2GSE9613 1454252 1455923 1671 0
CTCF G2GSE9613 1456401 1456647 246 0
CTCF G2GSE9613 1457267 1457581 314 0
CTCF G2GSE9613 1460633 1461108 475 0
CTCF G2GSE9613 1461767 1462162 395 0
CTCF G2GSE9613 1464517 1465371 854 0
NFkBII GM12892GSE19485 1448509 1449743 1234 0
NRSF pAbJurkat 1437177 1439025 1848 0
NRSF pAbJurkat 1445237 1446529 1292 0
PHF8 Hs68plusFBSGSE20725 1464111 1465821 1710 0
Rb QuiescentGSE19898 1464930 1465049 119 0
TAF HelaGSE8489 1449488 1450083 595 0
TFAP2C MCF7GSE21234 1460798 1461751 953 0
USF1 HepG2E 1463154 1463329 175 0
USF1 HepG2E 1464111 1464468 357 0
c MYCMCF7 1449300 1450196 896 0
hScc1 BcellGSE12603 1437118 1438304 1186 0
hScc1 BcellGSE12603 1440238 1440732 494 0
hScc1 BcellGSE12603 1446167 1446529 362 0
hScc1 BcellGSE12603 1458124 1458354 230 0
hScc1 BcellGSE12603 1464396 1465052 656 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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